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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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Dettagli Bibliografici
Pubblicato in:J Clin Res Pediatr Endocrinol
Autori principali: Durmaz, Asude, Aykut, Ayça, Atik, Tahir, Özen, Samim, Ayyıldız Emecen, Durdugül, Ata, Aysun, Işık, Esra, Gökşen, Damla, Çoğulu, Özgür, Özkınay, Ferda
Natura: Artigo
Lingua:Inglês
Pubblicazione: Galenos Publishing 2021
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Accesso online: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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