A novel SETD2 variant causing global development delay without overgrowth in a Chinese 3-year-old boy

A novel SETD2 variant causing global development delay without overgrowth in a Chinese 3-year-old boy

Background: Luscan-Lumish syndrome is characterized by macrocephaly, postnatal overgrowth, intellectual disability (ID), developmental delay (DD), which is caused by heterozygous SETD2 (SET domain containing 2) mutations. The incidence of Luscan-Lumish syndrome is unclear. The study was conducted to...

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Bibliographic Details
Main Authors: Yuanyuan Wu, Fang Liu, Ruihua Wan, Baoquan Jiao
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-03-01
Series:Frontiers in Genetics
Subjects:
Luscan-Lumish syndrome
SETD2
overgrowth
intellectual disability
developmental delay
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2023.1153284/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2023.1153284/full

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