Identification of novel pathogenic variants in the GNAS gene in children with morbid obesity and pseudohypoparathyroidism

Pseudohypoparathyroidism (PHP) is a clinically heterogeneous group of rare inherited bone diseases characterized by resistance of target organs to the action of parathormone (PTH) as result of an epi/genetic disorder.This article describes patients with the phenotype of pseudohypoparathyroidism type...

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Váldodahkkit:	D. A. Kopytina, O. V. Vasyukova, R. R. Salakhov, P. L. Okorokov, E. V. Kopytina, E. V. Nagaeva, R. I. Khusainova, I. R. Minniakhmetov, S. V. Popov, O. B. Bezlepkina, N. G. Mokrysheva
Materiálatiipa:	Artigo
Giella:	Inglês
Almmustuhtton:	Endocrinology Research Centre 2025-01-01
Ráidu:	Ожирение и метаболизм
Fáttát:	morbid obesity pseudohypoparathyroidism hypercalcitoninemia gnas
Liŋkkat:	https://www.omet-endojournals.ru/jour/article/view/13169
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