THU143 A Novel Maternally Inherited GNAS Variant In A Family With Hyperphagia And Obesity

Disclosure: P. Purushothaman: None. A. Ramakrishnan: None. E.F. Gevers: None. Introduction: Heterozygous inactivating mutations in the maternal allele of the GNAS gene typically result in pseudohypoparathyroidism (PHP) characterized by developmental delay, short stature, obesity, hormone resistance...

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Detalles Bibliográficos
Autores principales: Purushothaman, Preetha, Ramakrishnan, Anand, Gevers, Evelien F
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Pediatric Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10553617/
http://dx.doi.org/10.1210/jendso/bvad114.1395

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10553617/
http://dx.doi.org/10.1210/jendso/bvad114.1395

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