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

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

Abstract 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 genet...

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Bibliographic Details
Main Authors: Yangfan Fei, Lv Liu, Lixia Wu, Ou Wang, Xiaoping Xing, Aiping Li, Lingyi Huang
Format: Article
Language:English
Published: Wiley 2023-05-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
20q13.2
GNAS
Pseudohypoparathyroidism
Pseudo‐pseudohypoparathyroidism
whole‐genome sequencing
Online Access:https://doi.org/10.1002/mgg3.2144

Internet

https://doi.org/10.1002/mgg3.2144

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