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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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Опубликовано в: :J Clin Res Pediatr Endocrinol
Главные авторы: Durmaz, Asude, Aykut, Ayça, Atik, Tahir, Özen, Samim, Ayyıldız Emecen, Durdugül, Ata, Aysun, Işık, Esra, Gökşen, Damla, Çoğulu, Özgür, Özkınay, Ferda
Формат: Artigo
Язык:Inglês
Опубликовано: Galenos Publishing 2021
Предметы:
Online-ссылка: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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