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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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Bibliografski detalji
Izdano u:J Clin Res Pediatr Endocrinol
Glavni autori: Durmaz, Asude, Aykut, Ayça, Atik, Tahir, Özen, Samim, Ayyıldız Emecen, Durdugül, Ata, Aysun, Işık, Esra, Gökşen, Damla, Çoğulu, Özgür, Özkınay, Ferda
Format: Artigo
Jezik:Inglês
Izdano: Galenos Publishing 2021
Teme:
Online pristup: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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