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Article

De novo variants of DEAF1 cause intellectual disability in six Chinese patients.

Clinica chimica acta; international journal of clinical chemistry - 1 Jul 2021

Chen Shimeng, Deng Xiaolu, Xiong Juan, He Fang, Yang Lifen, Chen Baiyu, Chen Chen, Zhang Ciliu, Yang Li, Peng Jing, Yin Fei

Abstract excerpt

BACKGROUND: It has been reported that de novo heterozygous variants of DEAF1 can cause DEAF1-associated neurodevelopmental disorder. The purpose of this article is to explore the clinical and genetic characteristics of Chinese patients harboring de novo DEAF1 variants. METHODS: We assembled a cohort of six unrelated patients with de novo variants in DEAF1. Clinical and genetic features of these patients were...

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PMID: 33705764
DOI: 10.1016/j.cca.2021.02.026

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