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

Yangfan Fei, Lv Liu, Lixia Wu,Ou Wang,Xiaoping Xing, Aiping Li, Lingyi Huang

Molecular Genetics & Genomic Medicine（2023）

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摘要

This report demonstrated the variability of 20q13.2 deletion phenotypes and the clinical importance of using multiple molecular genetic detection methods.

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关键词

20q13.2,GNAS,Pseudo-pseudohypoparathyroidism,Pseudohypoparathyroidism,whole-genome sequencing

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