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Evaluating the variety of GNAS inactivation disorders and their clinical manifestations in 11 Chinese children

BACKGROUND: The GNAS gene on chromosome 20q13.3, encodes the alpha-subunit of the stimulatory G protein, which is expressed in most tissues and regulated through reciprocal genomic imprinting. Disorders of GNAS inactivation produce several different clinical phenotypes including pseudohypoparathyroi...

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Detalles Bibliográficos
Autores principales: Chang, Guoying, Li, Qun, Li, Niu, Li, Guoqiang, Li, Juan, Ding, Yu, Huang, Xiaodong, Shen, Yongnian, Wang, Jian, Wang, Xiumin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8928694/
https://www.ncbi.nlm.nih.gov/pubmed/35296306
http://dx.doi.org/10.1186/s12902-022-00941-8