The spectrum of mutations in TBX3: Genotype/Phenotype relationship in ulnar-mammary syndrome.

Ulnar-mammary syndrome (UMS) is a pleiotropic disorder affecting limb, apocrine-gland, tooth, hair, and genital development. Mutations that disrupt the DNA-binding domain of the T-box gene, TBX3, have been demonstrated to cause UMS. However, the 3' terminus of the open reading frame (ORF) of TB...

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Détails bibliographiques
Auteurs principaux: Bamshad, M, Le, T, Watkins, W S, Dixon, M E, Kramer, B E, Roeder, A D, Carey, J C, Root, S, Schinzel, A, Van Maldergem, L, Gardner, R J, Lin, R C, Seidman, C E, Seidman, J G, Wallerstein, R, Moran, E, Sutphen, R, Campbell, C E, Jorde, L B
Format: Artigo
Langue:Inglês
Publié: 1999
Sujets:
Research Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377898/
https://ncbi.nlm.nih.gov/pubmed/10330342
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