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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Dettagli Bibliografici
Pubblicato in:Eur J Hum Genet
Autori principali: van Haelst, Mieke M, Monroe, Glen R, Duran, Karen, van Binsbergen, Ellen, Breur, Johannes M, Giltay, Jacques C, van Haaften, Gijs
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group 2015
Soggetti:
Short Report
Accesso online: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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