Next generation sequencing of chromosomal rearrangements in patients with split-hand/split-foot malformation provides evidence for DYNC1I1 exonic enhancers of DLX5/6 expression in humans

OBJECTIVE: Split-hand/foot malformation type 1 is an autosomal dominant condition with reduced penetrance and variable expression. We report three individuals from two families with split-hand/split-foot malformation (SHFM) in whom next generation sequencing was performed to investigate the cause of...

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Detalhes bibliográficos
Main Authors: Lango Allen, Hana, Caswell, Richard, Xie, Weijia, Xu, Xiao, Wragg, Christopher, Turnpenny, Peter D, Turner, Claire L S, Weedon, Michael N, Ellard, Sian
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 2014
Assuntos:
Chromosomal Rearrangements
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3963551/
https://ncbi.nlm.nih.gov/pubmed/24459211
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2013-102142
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