Deletion and Point Mutations of PTHLH Cause Brachydactyly Type E

Autosomal-dominant brachydactyly type E (BDE) is a congenital limb malformation characterized by small hands and feet predominantly as a result of shortened metacarpals and metatarsals. In a large pedigree with BDE, short stature, and learning disabilities, we detected a microdeletion of ∼900 kb enc...

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Autores principales: Klopocki, Eva, Hennig, Bianca P., Dathe, Katarina, Koll, Randi, de Ravel, Thomy, Baten, Emiel, Blom, Eveline, Gillerot, Yves, Weigel, Johannes F.W., Krüger, Gabriele, Hiort, Olaf, Seemann, Petra, Mundlos, Stefan
Formato: Artigo
Lenguaje:Inglês
Publicado: Elsevier 2010
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC2833367/
https://ncbi.nlm.nih.gov/pubmed/20170896
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2010.01.023
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