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Article

Mutations in pseudohypoparathyroidism 1a and pseudopseudohypoparathyroidism in ethnic Chinese.

PloS one - 1 Jan 2014

Wu Yi-Lei, Hwang Daw-Yang, Hsiao Hui-Pin, Ting Wei-Hsin, Huang Chi-Yu, Tsai Wen-Yu, Chen Hung-Chun, Chao Mei-Chyn, Lo Fu-Sung, Tsai Jeng-Daw, Yang Stone, Shih Shin-Lin, Lin Shuan-Pei, Lin Chiung-Ling, Lee Yann-Jinn

Abstract excerpt

An inactivating mutation in the GNAS gene causes either pseudohypoparathyroidism 1a (PHP1A) when it is maternally inherited or pseudopseudohypoparathyroidism (PPHP) when it is paternally inherited. We investigated clinical manifestations and mutations of the GNAS gene in ethnic Chinese patients with PHP1A or PPHP. Seven patients from 5 families including 4 girls and 2 boys with PHP1A and 1 girl with PPHP were...

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Identifiers

PMID: 24651309
DOI: 10.1371/journal.pone.0090640
PMCID: PMC3961212

Genes

GNAS

Variants

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