Article

Multi-omics in MECP2 duplication syndrome patients and carriers.

2024-04-10

Abstract excerpt

MECP2 duplication syndrome (MDS) is an X-linked neurodevelopmental disorder caused by the gain of dose of at least the genes MECP2 and IRAK1 and is characterised by intellectual disability (ID), developmental delay, hypotonia, epilepsy and recurrent infections. It mainly affects males, and females can be affected or asymptomatic carriers. Rett syndrome (RTT) is mainly triggered by loss of function mutations in...

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Literature Corpus work: c04b37d1-2b5b-57a5-ad16-aa139f2f218c
DOI: 10.22541/au.171276288.82845674/v1

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