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Article

[Clinical features, mutation of the GNAS1 and pathogenesis of progressive osseous heteroplasia].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 Jan 2012

Wu Feng-qi, Wang Li, Zou Ji-zhen, Huang Xiao-lan, Yuan Xin-yu

Abstract excerpt

OBJECTIVE: To investigate the clinical features, mutation of the GNAS1 and pathogenesis of progressive osseous heteroplasia (POH). METHOD: The typical clinical, pathological and radiographic features of a boy with POH were collected and summarized following family survey. The GNAS1 gene sequence of all family members were amplified by polymerase chain reaction (PCR) and the products were sequenced directly to...

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PMID: 22456068

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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