A nonsense variant in HERC1 is associated with intellectual disability, megalencephaly, thick corpus...
A nonsense variant in HERC1 is associated with intellectual disability, megalencephaly, thick corpus callosum and cerebellar atrophy
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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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Contents
Megalencephaly is a congenital condition characterized by severe overdeveloped brain size. This phenotype is often caused by mutations affecting the RTK/PI3K/mTOR (receptor tyrosine kinase-phosphatidylinositol-3-kinase-AKT) signaling and its downstream pathway of mammalian target of rapamycin (mTOR). Here, using a whole-exome sequencing in a Morocc...
Alternative Titles
Full title
A nonsense variant in HERC1 is associated with intellectual disability, megalencephaly, thick corpus callosum and cerebellar atrophy
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4755376
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4755376
Other Identifiers
ISSN
1018-4813
E-ISSN
1476-5438
DOI
10.1038/ejhg.2015.140
