Novel TBX3 mutation data in families with Ulnar–Mammary syndrome indicate a genotype–phenotype relationship: mutations that do not disrupt the T-domain are associated with less severe limb defects-Reference-Cited by-同舟云学术

Novel TBX3 mutation data in families with Ulnar–Mammary syndrome indicate a genotype–phenotype relationship: mutations that do not disrupt the T-domain are associated with less severe limb defects

Published:2006-03 Issue:2 Volume:49 Page:151-158
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Meneghini Vasco,Odent Sylvie,Platonova Natalia,Egeo Aliana,Merlo Giorgio R.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference19 articles.

1. Mutations in human TBX3 alter limb, apocrine and genital development in Ulnar–Mammary syndrome;Bamshad;Nat. Genet.,1997

2. The spectrum of mutations in TBX3: genotype/phenotype relationship in Ulnar–Mammary syndrome;Bamshad;Am. J. Hum. Genet.,1999

3. Different TBX5 interactions in the heart and limb defined by Holt–Oram syndrome mutations;Basson;Proc. Natl. Acad. Sci. USA,1999

4. Expressivity of Holt–Oram syndrome is not predicted by TBX5 genotype;Brassington;Am. J. Hum. Genet.,2003

5. A dominant repression domain in Tbx3 mediates transcriptional repression and cell immortalization: relevance to mutations in Tbx3 that cause Ulnar–Mammary syndrome;Carlson;Hum. Mol. Genet.,2001

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