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Split hand/foot malformation genetics supports the chromosome 7 copy segregation mechanism for human limb development

Genetic aberrations of several unlinked loci cause human congenital split hand/foot malformation (SHFM) development. Mutations of the DLX5 (distal-less) transcription factor-encoding gene in chromosome 7 cause SHFM through haploinsufficiency, but the vast majority of cases result from heterozygous c...

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Detalles Bibliográficos
Autor principal: Klar, Amar J. S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Royal Society 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5104513/
https://www.ncbi.nlm.nih.gov/pubmed/27821526
http://dx.doi.org/10.1098/rstb.2015.0415