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Severe early onset obesity and hypopituitarism in a child with a novel SIM1 gene mutation

SUMMARY: Single-minded homolog 1 (SIM1) is a transcription factor that plays a role in the development of both the hypothalamus and pituitary. SIM1 gene mutations are known to cause obesity in humans, and chromosomal deletions encompassing SIM1 and other genes necessary for pituitary development can...

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Detalles Bibliográficos
Autores principales: Gonsalves, Rob, Aleck, Kirk, Newbern, Dorothee, Shaibi, Gabriel, Kapadia, Chirag, Oatman, Oliver
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7576654/
https://www.ncbi.nlm.nih.gov/pubmed/33434169
http://dx.doi.org/10.1530/EDM-20-0042