Whole‐genome sequencing revealed a novel long‐range deletion mutation spanning GNAS in familial pseudohypoparathyroidism

BACKGROUND: Pseudohypoparathyroidism (PHP) is a series of diseases related to pathological changes and neurocognitive and endocrine abnormalities, mainly due to the GNAS mutation on chromosome 20q13.2, which weakens receptor‐mediated hormone signal transduction. Considering its complex genetic and e...

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Detalles Bibliográficos
Autores principales: Fei, Yangfan, Liu, Lv, Wu, Lixia, Wang, Ou, Xing, Xiaoping, Li, Aiping, Huang, Lingyi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10178786/
https://www.ncbi.nlm.nih.gov/pubmed/36669868
http://dx.doi.org/10.1002/mgg3.2144

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10178786/
https://www.ncbi.nlm.nih.gov/pubmed/36669868
http://dx.doi.org/10.1002/mgg3.2144

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