Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly

PITX1 is a bicoid-related homeodomain transcription factor implicated in vertebrate hindlimb development. Recently, mutations in PITX1 have been associated with autosomal-dominant clubfoot. In addition, one affected individual showed a polydactyly and right-sided tibial hemimelia. We now report on P...

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Detalhes bibliográficos
Main Authors: Klopocki, Eva, Kähler, Christian, Foulds, Nicola, Shah, Hitesh, Joseph, Benjamin, Vogel, Hermann, Lüttgen, Sabine, Bald, Rainer, Besoke, Regina, Held, Karsten, Mundlos, Stefan, Kurth, Ingo
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2012
Assuntos:
Short Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3355260/
https://ncbi.nlm.nih.gov/pubmed/22258522
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2011.264
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