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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Detalles Bibliográficos
Autores principales: Lango Allen, Hana, Caswell, Richard, Xie, Weijia, Xu, Xiao, Wragg, Christopher, Turnpenny, Peter D, Turner, Claire L S, Weedon, Michael N, Ellard, Sian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2014
Materias:
Chromosomal Rearrangements
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3963551/
https://www.ncbi.nlm.nih.gov/pubmed/24459211
http://dx.doi.org/10.1136/jmedgenet-2013-102142

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3963551/
https://www.ncbi.nlm.nih.gov/pubmed/24459211
http://dx.doi.org/10.1136/jmedgenet-2013-102142

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