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Isolated brachydactyly type E caused by a HOXD13 nonsense mutation: a case report

BACKGROUND: Brachydactyly type E (BDE; MIM#113300) is characterized by shortening of the metacarpal, metatarsal, and often phalangeal bones, and predominantly affects postaxial ray(s) of the limb. BDE may occur as an isolated trait or as part of a syndrome. Isolated BDE is rare and in the majority o...

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Detalles Bibliográficos
Autores principales:	Jamsheer, Aleksander, Sowińska, Anna, Kaczmarek, Leszek, Latos-Bieleńska, Anna
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2012
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3278352/ https://www.ncbi.nlm.nih.gov/pubmed/22233338 http://dx.doi.org/10.1186/1471-2350-13-4

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