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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Detalles Bibliográficos
Autores principales: Durmaz, Asude, Aykut, Ayça, Atik, Tahir, Özen, Samim, Ayyıldız Emecen, Durdugül, Ata, Aysun, Işık, Esra, Gökşen, Damla, Çoğulu, Özgür, Özkınay, Ferda
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2021
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7947731/
https://www.ncbi.nlm.nih.gov/pubmed/32936766
http://dx.doi.org/10.4274/jcrpe.galenos.2020.2020.0101

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