Further confirmation of the MED13L haploinsufficiency syndrome

MED13L haploinsufficiency syndrome has been described in two patients and is characterized by moderate intellectual disability (ID), conotruncal heart defects, facial abnormalities and hypotonia. Missense mutations in MED13L are linked to transposition of the great arteries and non-syndromal intelle...

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Detalhes bibliográficos
Publicado no:Eur J Hum Genet
Main Authors: van Haelst, Mieke M, Monroe, Glen R, Duran, Karen, van Binsbergen, Ellen, Breur, Johannes M, Giltay, Jacques C, van Haaften, Gijs
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2015
Assuntos:
Short Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4266749/
https://ncbi.nlm.nih.gov/pubmed/24781760
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2014.69
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