A New Cause of Obesity Syndrome Associated with a Mutation in the Carboxypeptidase Gene Detected in Three Siblings with Obesity, Intellectual Disability and Hypogonadotropic Hypogonadism

OBJECTIVE: Carboxypeptidase E (CPE) plays a critical role in the biosynthesis of peptide hormones and neuropeptides in the endocrine system and central nervous system. CPE knockout mice models exhibit disorders such as diabetes, hyperproinsulinaemia, low bone mineral density and neurodevelopmental d...

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Detalhes bibliográficos
Publicado no:J Clin Res Pediatr Endocrinol
Main Authors: Durmaz, Asude, Aykut, Ayça, Atik, Tahir, Özen, Samim, Ayyıldız Emecen, Durdugül, Ata, Aysun, Işık, Esra, Gökşen, Damla, Çoğulu, Özgür, Özkınay, Ferda
Formato: Artigo
Idioma:Inglês
Publicado em: Galenos Publishing 2021
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Original Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7947731/
https://ncbi.nlm.nih.gov/pubmed/32936766
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4274/jcrpe.galenos.2020.2020.0101
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