Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L...
Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome
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Author / Creator
Cafiero, Concetta , Marangi, Giuseppe , Orteschi, Daniela , Ali, Marwan , Asaro, Alessia , Ponzi, Emanuela , Moncada, Alice , Ricciardi, Stefania , Murdolo, Marina , Mancano, Giorgia , Contaldo, Ilaria , Leuzzi, Vincenzo , Battaglia, Domenica , Mercuri, Eugenio , Slavotinek, Anne M and Zollino, Marcella
Publisher
England: Nature Publishing Group
Journal title
Language
English
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Publisher
England: Nature Publishing Group
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Scope and Contents
Contents
MED13L haploinsufficiency has recently been described as responsible for syndromic intellectual disability. We planned a search for causative gene variants in seven subjects with intellectual disability and overlapping dysmorphic facial features such as bulbous nasal tip, short mouth and straight eyebrows. We found two de novo frameshift variants i...
Alternative Titles
Full title
Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome
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Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4613466
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4613466
Other Identifiers
ISSN
1018-4813
E-ISSN
1476-5438
DOI
10.1038/ejhg.2015.19
