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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...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2022
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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 |