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Article

MECP2 germline mosaicism plays an important part in the inheritance of Rett syndrome: a study of MECP2 germline mosaicism in males.

BMC medicine - 20 Apr 2023

Wen Yongxin, Wang Jiaping, Zhang Qingping, Yang Xiaoxu, Wei Liping, Bao Xinhua

Abstract excerpt

BACKGROUND: Germline mosaicisms could be inherited to offspring, which considered as "de novo" in most cases. Paternal germline MECP2 mosaicism has been reported in fathers of girls with Rett syndrome (RTT) previously. For further study, we focused on MECP2 germline mosaicism in males, not only RTT fathers. METHODS: Thirty-two fathers of RTT girls with MECP2 pathogenic mutations and twenty-five healthy adult...

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Identifiers

PMID: 37081442
DOI: 10.1186/s12916-023-02846-2
PMCID: PMC10120091

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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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