MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus

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)...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5597252/
https://www.ncbi.nlm.nih.gov/pubmed/28859103
http://dx.doi.org/10.1371/journal.pgen.1006957

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5597252/
https://www.ncbi.nlm.nih.gov/pubmed/28859103
http://dx.doi.org/10.1371/journal.pgen.1006957

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