Article
BDV Syndrome: An Emerging Syndrome With Profound Obesity and Neurodevelopmental Delay Resembling Prader-Willi Syndrome.
The Journal of clinical endocrinology and metabolism - 19 Nov 2021
Bosch Elisabeth, Hebebrand Moritz, Popp Bernt, Penger Theresa, Behring Bettina, Cox Helen, Towner Shelley, Kraus Cornelia, Wilson William G, Khan Shagufta, Krumbiegel Mandy, Ekici Arif B, Uebe Steffen, Trollmann Regina, Woelfle Joachim, Reis André, Vasileiou Georgia
Abstract excerpt
CONTEXT: CPE encodes carboxypeptidase E, an enzyme that converts proneuropeptides and propeptide hormones to bioactive forms. It is widely expressed in the endocrine and central nervous system. To date, 4 individuals from 2 families with core clinical features including morbid obesity, neurodevelopmental delay, and hypogonadotropic hypogonadism, harboring biallelic loss-of-function (LoF) CPE variants, have been...
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