Novel SETBP1 mutation in a chinese family with intellectual disability.

doi:10.1186/s12920-023-01649-x

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Article

Novel SETBP1 mutation in a chinese family with intellectual disability.

BMC medical genomics - 5 Oct 2023

Wang Le, Wang Xu-Dong, Yang Bo, Wang Xue-Meng, Peng Yu-Qian, Tan Hang-Jing, Xiao Hong-Mei

Abstract excerpt

BACKGROUND: Intellectual disability (ID) is characterized by an IQ < 70, which implies below-average intellectual function and a lack of skills necessary for daily living. ID may occur due to multiple causes, such as metabolic, infectious, and chromosomal causes. ID affects approximately 1-3% of the population; however, the cause can be identified in only 25% of clinical patients. METHODS: To find the cause of...

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Identifiers

PMID: 37798664
DOI: 10.1186/s12920-023-01649-x
PMCID: PMC10552191

Genes

SETBP1

Variants

Provenance

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