Further confirmation of the MED13L haploinsufficiency syndrome
Further confirmation of the MED13L haploinsufficiency syndrome
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Publisher
England: Nature Publishing Group
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Language
English
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Publisher
England: Nature Publishing Group
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Scope and Contents
Contents
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 intellectual disability. Here we describe two novel patie...
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Full title
Further confirmation of the MED13L haploinsufficiency syndrome
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4266749
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4266749
Other Identifiers
ISSN
1018-4813
E-ISSN
1476-5438
DOI
10.1038/ejhg.2014.69
