Article

Lack of MECP2 gene transcription on the duplicated alleles of two MECP2 duplication females with opposite skewed X chromosome inactivation

2021-04-05

Abstract excerpt

Xq28 (involving MECP2) duplication syndrome is a severe neurodevelopmental disorder in males, most females are asymptomatic carriers, but there are phenotypic heterogeneities in the females. Skewed X-chromosome inactivation (XCI) seems to prevent duplicated region activation in asymptomatic females, but it remains controversial. Herein we reported two asymptomatic females (daughter and mother) with interstitial Xq...

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Literature Corpus work: c94b7798-111d-597f-b97a-2aca949c5e9c
DOI: 10.22541/au.161762393.39262851/v1

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