MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression...
MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus
About this item
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Author / Creator
Blanchet, Patricia , Bebin, Martina , Bruet, Shaam , Cooper, Gregory M. , Thompson, Michelle L. , Duban-Bedu, Benedicte , Gerard, Benedicte , Piton, Amelie , Suckno, Sylvie , Deshpande, Charu , Clowes, Virginia , Vogt, Julie , Turnpenny, Peter , Williamson, Michael P. , Alembik, Yves , Glasgow, Eric , McNeill, Alisdair , Clinical Sequencing Exploratory Research Study Consortium and Deciphering Developmental Disorders Consortium
Publisher
United States: Public Library of Science
Journal title
Language
English
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Publication information
Publisher
United States: Public Library of Science
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Scope and Contents
Contents
Deletions at chromosome 2p25.3 are associated with a syndrome consisting of intellectual disability and obesity. The smallest region of overlap for deletions at 2p25.3 contains PXDN and MYT1L. MYT1L is expressed only within the brain in humans. We hypothesized that single nucleotide variants (SNVs) in MYT1L would cause a phenotype resembling deleti...
Alternative Titles
Full title
MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus
Authors, Artists and Contributors
Author / Creator
Bebin, Martina
Bruet, Shaam
Cooper, Gregory M.
Thompson, Michelle L.
Duban-Bedu, Benedicte
Gerard, Benedicte
Piton, Amelie
Suckno, Sylvie
Deshpande, Charu
Clowes, Virginia
Vogt, Julie
Turnpenny, Peter
Williamson, Michael P.
Alembik, Yves
Glasgow, Eric
McNeill, Alisdair
Clinical Sequencing Exploratory Research Study Consortium
Deciphering Developmental Disorders Consortium
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_plos_journals_1939435868
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1939435868
Other Identifiers
ISSN
1553-7404,1553-7390
E-ISSN
1553-7404
DOI
10.1371/journal.pgen.1006957
