Expressivity of Holt-Oram Syndrome Is Not Predicted by TBX5 Genotype-Reference-Cited by-同舟云学术

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Expressivity of Holt-Oram Syndrome Is Not Predicted by TBX5 Genotype

Published:2003-07 Issue:1 Volume:73 Page:74-85
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Brassington Anna-Marie E.,Sung Sandy S.,Toydemir Reha M.,Le Trung,Roeder Amy D.,Rutherford Ann E.,Whitby Frank G.,Jorde Lynn B.,Bamshad Michael J.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference31 articles.

1. Detection of a large TBX5 deletion in a family with Holt-Oram syndrome;Akrami;J Med Genet,2001

2. Holt-Oram syndrome: is there a “face?”;Allanson;Am J Med Genet,2003

3. Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome;Bamshad;Nat Genet,1997

4. Mutations in human TBX5 cause limb and cardiac malformation in Holt-Oram Syndrome;Basson;Nat Genet,1997

5. The clinical and genetic spectrum of the Holt-Oram syndrome (heart-hand syndrome);Basson;N Engl J Med,1994

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