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骨ミネラル代謝, 心臓, 先天性遺伝子オレゴン, orthopedics
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ホルト-オラム症候群 - 異常骨や心臓病の遺伝性疾患
に定義されています ホルト-オラム症候群
Holt-Oram syndrome is a disorder that affects bones in the arms and hands (the upper limbs) and may also cause heart problems.
よりたくさんの
Holt-Oram syndrome is a disorder that affects bones in the arms and hands (the upper limbs) and may also cause heart problems. All people with this disorder have at least one limb abnormality that affects bones in the wrist (carpal bones). Often, these wrist bone abnormalities can be detected only by X-ray. Affected individuals may have additional bone abnormalities that can include a missing thumb or a thumb that looks like a finger, partial or complete absence of bones in the forearm, an underdeveloped bone of the upper arm, and abnormalities that affect the collar bone and shoulder blades. Bone abnormalities may affect each arm differently, and the left side can be affected more than the right side. In some cases, only one arm and/or hand is affected.
less
いくつかの共通の現象
腕とや足が変形
手の変形と指
心雑音
heart murmur systolic
いくつかの関連診断
1 - 4 of
4
診断
サラセミアintermediaが
混合性結合組織病
ファンコニの汎血球減少症症候群
サラセミアメジャー
より
私はありますか? 'ホルト-オラム症候群'?
加えて、以下の診断テストをされるとの診断に役立つかどうかを確認する必要があります:
診断テストの検索結果を得るために 'ホルト-オラム症候群'
1 - 5 of
9
診断テスト
分子遺伝学的研究
ホルト-オラム症候群 および 分子遺伝学的研究
X線の手
ホルト-オラム症候群 および X線の手
X線手首
ホルト-オラム症候群 および X線手首
24ホルター監視時間です
24 monitoring of heart rhythm
ホルト-オラム症候群 および 24ホルター監視時間です
胸部X線
Radiological technique to image the chest
ホルト-オラム症候群 および 胸部X線
心エコー図
ホルト-オラム症候群 および 心エコー図
心電図
Electrocardiogram
ホルト-オラム症候群 および 心電図
心臓カテーテル検査
coronary angiogram
ホルト-オラム症候群 および 心臓カテーテル検査
X線
ホルト-オラム症候群 および X線
詳細については、ログインしてください、ログイン情報(クリックしてログインする)無料です
治療の手順を 'ホルト-オラム症候群'?
常に患者さんの健康管理や介護のプロバイダによって決定されるべき疾患の治療. 下記の手順または関連する治療薬の一覧です Holt-Oram Syndrome:
治療の手順の検索結果 'ホルト-オラム症候群'
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ランキングは、コンピュータが生成されます. あなたの健康管理プロバイダを参照してください.
注入心臓ペースメーカーの
ホルト-オラム症候群 および 注入心臓ペースメーカーの
薬の検索結果 'ホルト-オラム症候群'
ランキングは、コンピュータが生成されます. あなたの健康管理プロバイダを参照してください.
ウェブ検索結果調査のための ホルト-オラム症候群
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その結果
1 - 50
- Atriodigital dysplasia
Holt-Oram syndrome - Wikipedia, the free encyclopedia
... of individuals with Holt-Oram syndrome have heart problems. ... Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family" ...
http://en.wikipedia.org/wiki/Holt-Oram_syndrome
en.wikipedia.org
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summary
Holt-Oram syndrome - Genetics Home Reference
... percent of individuals with Holt-Oram syndrome have heart problems. ... Gene Review: Holt-Oram Syndrome. MedlinePlus Encyclopedia: Skeletal Limb Abnormalities ...
http://ghr.nlm.nih.gov/condition=holtoramsyndrome
ghr.nlm.nih.gov
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summary
Holt-Oram Syndrome -- GeneReviews -- NCBI Bookshelf
Holt-Oram syndrome (HOS) is characterized by (1) upper-extremity malformations ... The diagnosis of Holt-Oram syndrome (HOS) can be established clinically. ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=hos
www.ncbi.nlm.nih.gov
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summary
Holt-Oram syndrome - References - Genetics Home Reference
Gene Review: Holt-Oram Syndrome. Huang T, Lock JE, Marshall AC, Basson C, Seidman JG, Seidman CE. ... heart disease: Holt-Oram syndrome revealed. Curr Opin ...
http://ghr.nlm.nih.gov/condition=holtoramsyndrome/show/References
ghr.nlm.nih.gov
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summary
Three novel TBX5 mutations in Chinese patients with Holt-Oram syndrome.
Holt-Oram syndrome (HOS) is an autosomal dominant syndrome that comprises upper ... Syndrome. T-Box Domain Proteins/genetics* Substances: T-Box Domain Proteins ...
http://www.ncbi.nlm.nih.gov/pubmed/10842287
www.ncbi.nlm.nih.gov
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summary
Prenatal sonographic diagnosis of familial Holt-Oram syndrome ...
... of familial Holt-Oram syndrome diagnosed sonographically at ... most commonly associated with Holt-Oram syndrome are atrial or ventricular septal defects. ...
http://www.ncbi.nlm.nih.gov/pubmed/18685167?ordinalpos=27&it...
www.ncbi.nlm.nih.gov
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summary
Holt-Oram syndrome - Educational resources - Information pages ...
Genetic Conditions > Holt-Oram syndrome > Educational resources - Information pages ... in the Genetics Home Reference condition summary on Holt-Oram syndrome. ...
http://ghr.nlm.nih.gov/condition=holtoramsyndrome/show/Educational+resources
ghr.nlm.nih.gov
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summary
Holt-Oram syndrome - MedlinePlus - Health information - Genetics Home ...
Genetic Conditions > Holt-Oram syndrome > MedlinePlus - Health information ... in the Genetics Home Reference condition summary on Holt-Oram syndrome. ...
http://ghr.nlm.nih.gov/condition=holtoramsyndrome/show/MedlinePlus
ghr.nlm.nih.gov
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summary
Holt-Oram syndrome vs heart-hand syndrome.
1999 Mar 16;99(10):1395-6. Holt-Oram syndrome vs heart-hand syndrome. Basson CT. ... Humans. Mutation. Syndrome. PMID: 10801768 [PubMed - indexed for MEDLINE] ...
http://www.ncbi.nlm.nih.gov/pubmed/10801768
www.ncbi.nlm.nih.gov
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summary
Holt-Oram syndrome - Related Gene(s) - Genetics Home Reference
Genetic Conditions > Holt-Oram syndrome > Related Gene(s) TBX5: T-box 5. Reviewed: June 2006 ... Lister Hill National Center for Biomedical Communications ...
http://ghr.nlm.nih.gov/condition=holtoramsyndrome/show/Related+Gene(s)
ghr.nlm.nih.gov
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summary
The mutation spectrum in Holt-Oram syndrome.
1: J Med Genet. 2000 Oct;37(10):785-7. The mutation spectrum in Holt-Oram syndrome. ... Syndrome. Secondary Source ID: GENBANK/AF221714. PMID: 11183182 [PubMed ...
http://www.ncbi.nlm.nih.gov/pubmed/11183182
www.ncbi.nlm.nih.gov
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summary
Holt-oram syndrome and atrial fibrillation: opening the (T)-box.
2008 Jun 6;102(11):1433-42. Holt-oram syndrome and atrial fibrillation: opening the (T)-box. ... Syndrome. T-Box Domain Proteins/genetics* Substances: T-Box ...
http://www.ncbi.nlm.nih.gov/pubmed/18535267?dopt=Abstract
www.ncbi.nlm.nih.gov
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summary
Holt-Oram syndrome
Holt-Oram syndrome (HOS) is characterized by mild-to-severe congenital cardiac ... Holt-Oram syndrome is caused by mutations in. TBX5, a member of the ...
http://www.orpha.net/data/patho/GB/uk-HOS.pdf
www.orpha.net
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summary
TAR SYNDROME - Pedbase.org
Thrombocytopenia-Absent Radii (TAR) Syndrome is characterized by the neonatal ... Baller-Gerold Syndrome. Fanconi Anemia. Holt-Oram Syndrome. VATER Association ...
http://pedbase.org/t/tar-syndrome/
pedbase.org
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summary
Introduction: Congenital Cardiovascular Anomalies: Merck Manual ...
... syndrome); other anomalies may be part of a genetic syndrome (eg, Holt-Oram syndrome) ... Hypoplastic left heart syndrome ...
http://www.merck.com/mmpe/print/sec19/ch287/ch287a.html
www.merck.com
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summary
MedicineNet Ventricular Septal Defect Specialty
How to Choose a Doctor. Doctor: Checklist to Take To Your Doctor's Appointment ... VACTERL association. Ventricular. Holt-Oram syndrome ...
http://www.medicinenet.com/rss/specialty/Ventricular_Septal_Defect.xml
www.medicinenet.com
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summary
Duane-radial ray syndrome - Wikipedia, the free encyclopedia
... Holt-Oram syndrome; however, these two disorders are caused by mutations in different genes. ... syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, ...
http://en.wikipedia.org/wiki/Duane-radial_ray_syndrome
en.wikipedia.org
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summary
Holt Oram Syndrome - Yahoo! Health
Important It is possible that the main title of the report Holt Oram Syndrome is not the name you expected. Please check the synonyms listing to find the alternate ...
http://health.yahoo.com/heart-resources/holt-oram-syndrome/h...
health.yahoo.com
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summary
Atrial Septal Defect (ASD): Congenital Cardiovascular Anomalies: Merck ...
... part of a genetic syndrome (eg, mutations of chromosome 5, Holt-Oram syndrome) ... when an ASD is undiagnosed or untreated, Eisenmenger's syndrome develops. ...
http://www.merck.com/mmpe/print/sec19/ch287/ch287b.html
www.merck.com
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summary
Orphanet: Holt Oram syndrome
Holt-Oram syndrome. Orpha number. ORPHA392. Prevalence of rare diseases. 1-9 ... Holt-Oram syndrome (HOS) is characterized by mild-to-severe congenital cardiac ...
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=392
www.orpha.net
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summary
Sick sinus syndrome
Sick sinus syndrome is a group of abnormal heartbeats (arrhythmias) presumably caused by ... Holt-Oram Syndrome. Eisenmenger Syndrome - Pulmonary Hypertension ...
http://adam.about.com/encyclopedia/000161sym.htm
adam.about.com
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summary
MedlinePlus: Congenital Heart Defects
Genetics Home Reference: Holt-Oram syndrome(National Library of Medicine) ... Article: Treating the thoracic aorta in Marfan syndrome: surgery or TEVAR? ...
http://www.nlm.nih.gov/medlineplus/congenitalheartdefects.html
www.nlm.nih.gov
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summary
WebMD Health A-Z - Find reliable health and medical information on ...
Find a comprehensive index of trusted health and medical information. It is your ultimate guide to reliable ... Holt Oram Syndrome. Home blood sugar ...
http://www.webmd.com/a-to-z-guides/health-topics/hk-ho.htm
www.webmd.com
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summary
Turner syndrome
... with Turner syndrome have some ... Turner Syndrome. Holt-Oram Syndrome. Rare Diseases News Briefs 8/12/01. Eisenmenger Syndrome - Pulmonary Hypertension ...
http://adam.about.com/encyclopedia/000379trt.htm
adam.about.com
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summary
MedlinePlus: Hand Injuries and Disorders
Carpal Tunnel Syndrome. Elbow Injuries and Disorders. Raynaud's Disease ... Genetics Home Reference: Holt-Oram syndrome(National Library of Medicine) ...
http://www.nlm.nih.gov/medlineplus/handinjuriesanddisorders.html
www.nlm.nih.gov
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summary
Fountain syndrome - Wikipedia, the free encyclopedia
Fountain syndrome is an autosomal recessive congenital disorder characterized by ... thumb syndrome ˇ Holt-Oram syndrome ˇ Klippel-Trénaunay-Weber syndrome ˇ Nail ...
http://en.wikipedia.org/wiki/Fountain_syndrome
en.wikipedia.org
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summary
[Hand dermatoglyphics in patients with isolated triphalangia and Holt ...
[Hand dermatoglyphics in patients with isolated triphalangia and Holt-Oram syndrome] ... This trait may be considered diagnostic for the Holt-Oram syndrome. ...
http://www.ncbi.nlm.nih.gov/pubmed/7590221
www.ncbi.nlm.nih.gov
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summary
Duane-radial ray syndrome - Genetics Home Reference
... example, acro-renal-ocular syndrome is characterized by Duane ... Holt-Oram syndrome; however, these two disorders are caused by mutations in different genes. ...
http://ghr.nlm.nih.gov/condition=duaneradialraysyndrome
ghr.nlm.nih.gov
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summary
Nail-patella syndrome - Wikipedia, the free encyclopedia
... thumb syndrome ˇ Holt-Oram syndrome ˇ Klippel-Trénaunay-Weber syndrome ˇ Nail ... dysplasia ˇ Holt-Oram syndrome ˇ Cleidocranial dysostosis ˇ Li-Fraumeni syndrome ...
http://en.wikipedia.org/wiki/Nail-patella_syndrome
en.wikipedia.org
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summary
TBX5 - NextBio
... with Holt-Oram syndrome, a developmental ... Holt-Oram syndrome. Candesartan. Wall of atrium. Placental insufficiency. Penicillin G Potassium Sa...
http://www.nextbio.com/b/home/home.nb?q=TBX5
www.nextbio.com
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summary
Different TBX5 interactions in heart and limb defined by Holt-Oram ...
Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations. ... the clinical features of Holt-Oram syndrome caused by 10 different ...
http://www.ncbi.nlm.nih.gov/pubmed/10077612
www.ncbi.nlm.nih.gov
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summary
Duane-radial ray syndrome - References - Genetics Home Reference
... a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to ...
http://ghr.nlm.nih.gov/condition=duaneradialraysyndrome/show/References
ghr.nlm.nih.gov
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summary
Functional analysis of TBX5 missense mutations associated with Holt ...
... patients with Holt-Oram syndrome characterized by ... These defects are likely central to the pathogenesis of Holt-Oram syndrome. Publication Types: ...
http://www.ncbi.nlm.nih.gov/pubmed/12499378
www.ncbi.nlm.nih.gov
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summary
Congenital Heart Defects - Genetics Home Reference
Down syndrome. Holt-Oram syndrome. Jervell and Lange-Nielsen syndrome. Marfan syndrome ... BBB syndrome. Romano-Ward syndrome. short QT syndrome. Simpson ...
http://ghr.nlm.nih.gov/conditionGroup=congenitalheartdefects
ghr.nlm.nih.gov
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summary
Craniosynostosis
Holt-Oram Syndrome. Coping with Fibromyalgia - Coping with Chronic Fatigue Syndrome - Learn How... Gastaut Syndrome - What Is Lennox-Gastaut Syndrome. What ...
http://adam.about.com/encyclopedia/001590trt.htm
adam.about.com
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summary
PMID 12843316
... diagnosis of Holt-Oram syndrome and acro-renal-ocular syndrome for SALL4 ... mutations in two German families originally diagnosed as Holt-Oram syndrome ...
http://www.ncbi.nlm.nih.gov/pubmed/12843316
www.ncbi.nlm.nih.gov
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summary
IPEX (syndrome) - Wikipedia, the free encyclopedia
amino acid: Ornithine transcarbamylase deficiency ˇ Oculocerebrorenal syndrome ... dysplasia ˇ Holt-Oram syndrome ˇ Cleidocranial dysostosis ˇ Li-Fraumeni syndrome ...
http://en.wikipedia.org/wiki/IPEX_(syndrome)
en.wikipedia.org
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summary
Chromosome 12 - Conditions related to genes on chromosome 12 - Genetics ...
Holt-Oram syndrome. hypochondrogenesis. Kniest dysplasia ... Noonan syndrome. pachyonychia congenita. Parkinson disease. phenylketonuria ...
http://ghr.nlm.nih.gov/chromosome=12/show/Conditions
ghr.nlm.nih.gov
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summary
Zori Stalker Williams syndrome - Wikipedia, the free encyclopedia
Zori Stalker Williams syndrome at NIH's Office of Rare Diseases ... thumb syndrome ˇ Holt-Oram syndrome ˇ Klippel-Trénaunay-Weber syndrome ˇ Nail ...
http://en.wikipedia.org/wiki/Zori_Stalker_Williams_syndrome
en.wikipedia.org
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summary
SALL4-Related Disorders -- GeneReviews -- NCBI Bookshelf
Holt-Oram syndrome. ... Holt-Oram syndrome is caused by mutations in the gene TBX5. Holt-Oram syndrome and SALL4-related disorders have the same type of radial ray ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=drrs
www.ncbi.nlm.nih.gov
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summary
Heart and circulation - Genetics Home Reference
Cardiac-limb syndrome see Holt-Oram syndrome ... Heart-hand syndrome, type 1 see Holt-Oram syndrome ... syndrome see Holt-Oram syndrome. Ward-Romano Syndrome ...
http://ghr.nlm.nih.gov/conditionCategory=heartandcirculation
ghr.nlm.nih.gov
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summary
PMID 8988165
30-5 Holt-Oram syndrome is characterized by upper limb malformations and cardiac ... nonsense mutation in TBX5 causes Holt-Oram syndrome in affected members of one ...
http://www.ncbi.nlm.nih.gov/pubmed/8988165
www.ncbi.nlm.nih.gov
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summary
Hand Injuries and Disorders - Genetics Home Reference
... Gerold syndrome. Duane-radial ray syndrome. Greig ... genital syndrome. Holt-Oram syndrome. Pallister-Hall syndrome. Timothy syndrome. Townes ...
http://ghr.nlm.nih.gov/conditionGroup=handinjuriesanddisorders
ghr.nlm.nih.gov
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summary
TBX5 - T-box 5 - Genetics Home Reference
Holt-Oram syndrome - caused by mutations in the TBX5 gene. Researchers have identified more than 30 mutations that cause Holt-Oram syndrome. ...
http://ghr.nlm.nih.gov/gene=tbx5
ghr.nlm.nih.gov
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summary
Search Results - Genetics Home Reference
Holt-Oram syndrome. Condition summary. Related term: congenital heart defects. Related genes: TBX5 ... Alagille syndrome. Condition summary. Found in link ...
http://ghr.nlm.nih.gov/ghr/search?query="Congenital+Heart+Defects"
ghr.nlm.nih.gov
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summary
Okihiro syndrome is caused by SALL4 mutations.
... experience, clinical diagnosis of the syndrome can be elusive, owing to the ... features with other conditions, most notably Holt-Oram syndrome, a condition ...
http://www.ncbi.nlm.nih.gov/pubmed/12393809
www.ncbi.nlm.nih.gov
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summary
Impossible syndrome - Wikipedia, the free encyclopedia
Impossible Syndrome, or Chondrodysplasia situs inversus imperforate anus ... thumb syndrome ˇ Holt-Oram syndrome ˇ Klippel-Trénaunay-Weber syndrome ˇ Nail ...
http://en.wikipedia.org/wiki/Impossible_syndrome
en.wikipedia.org
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summary
142900
http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142900
www.ncbi.nlm.nih.gov
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summary
Keutel syndrome - Wikipedia, the free encyclopedia
Keutel syndrome is a rare autosomal recessive genetic disorder characterized by ... thumb syndrome ˇ Holt-Oram syndrome ˇ Klippel-Trénaunay-Weber syndrome ˇ Nail ...
http://en.wikipedia.org/wiki/Keutel_syndrome
en.wikipedia.org
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summary
TBX5 - Related Condition(s) - Genetics Home Reference
Related Condition(s) Holt-Oram syndrome. Reviewed: June 2006. Published: April 10, 2009. Lister Hill National Center for Biomedical Communications ...
http://ghr.nlm.nih.gov/gene=tbx5/show/Related+Condition(s)
ghr.nlm.nih.gov
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summary
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