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首页|期刊导航|中华医学杂志(英文版)|Novel compound heterozygous variants in lectin mannose-binding 2-like gene identified in a Chinese autosomal recessive mental retardation-52 (MRT52) patient with phenotype expansion

Novel compound heterozygous variants in lectin mannose-binding 2-like gene identified in a Chinese autosomal recessive mental retardation-52 (MRT52) patient with phenotype expansion

Cong Zhou Xing Wei Yuanyuan Xiao Shanling Liu Jing Wang

中华医学杂志(英文版)2023,Vol.136Issue(17):2107-2109,3.
中华医学杂志(英文版)2023,Vol.136Issue(17):2107-2109,3.DOI:10.1097/CM9.0000000000002285

Novel compound heterozygous variants in lectin mannose-binding 2-like gene identified in a Chinese autosomal recessive mental retardation-52 (MRT52) patient with phenotype expansion

Novel compound heterozygous variants in lectin mannose-binding 2-like gene identified in a Chinese autosomal recessive mental retardation-52 (MRT52) patient with phenotype expansion

Cong Zhou 1Xing Wei 1Yuanyuan Xiao 1Shanling Liu 1Jing Wang1

作者信息

  • 1. Department of Obstetrics and Gynecology,West China Second University Hospital,Sichuan University,Chengdu,Sichuan 610041,China||Key Laboratory of Birth Defects and Related Diseases of Women and Children,Ministry of Education,Sichuan University,Chengdu,Sichuan 610041,China
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摘要

引用本文复制引用

Cong Zhou,Xing Wei,Yuanyuan Xiao,Shanling Liu,Jing Wang..Novel compound heterozygous variants in lectin mannose-binding 2-like gene identified in a Chinese autosomal recessive mental retardation-52 (MRT52) patient with phenotype expansion[J].中华医学杂志(英文版),2023,136(17):2107-2109,3.

基金项目

This research was supported by grants from the National Key Research and Development Program of China(No.2021YFC1005300)and the Program of Science and Technology Department of Sichuan Province(No.2022YFS0244). (No.2021YFC1005300)

中华医学杂志(英文版)

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