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...

Descripción completa

Guardado en:
Detalles Bibliográficos
Autores principales: 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
Lenguaje:Inglês
Publicado: Nature Publishing Group 2012
Materias:
Short Report
Acceso en línea: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
Etiquetas: Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!

Ejemplares similares