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MeSH:(Nervous System Malformations/genetics*)

1.Clinical report and genetic analysis of a child with Aicardi-Goutières syndrome type 3 due to compound heterozygous variants of RNASEH2C gene.

Juan LIU ; Jihong HU ; Rong QIN ; Yaqin DUAN ; Hongtao ZHOU ; Yujuan XIONG

Chinese Journal of Medical Genetics 2023;40(1):81-86

3.Value of chromosomal microarray analysis for the diagnosis of fetuses with anomalies of central nervous system.

Peixuan CAO ; Xiangyu ZHU ; Leilei GU ; Wei LIU ; Jie LI

Chinese Journal of Medical Genetics 2023;40(2):181-185

4.Clinical and genetic analysis of a child with mental retardation and microcephaly with pontine and cerebellar hypoplasia.

Ziwei WANG ; Chuang LI ; Yan ZHAO ; Ling LI ; Yuan LYU ; Hong CUI

Chinese Journal of Medical Genetics 2021;38(10):985-988

5.Clinical and genetic analysis of a family with Aicardi-Goutières syndrome and literature review.

Taoyun JI ; Jingmin WANG ; Huijuan LI ; Lirong ZHAO ; Yan SANG ; Ye WU

Chinese Journal of Pediatrics 2014;52(11):822-827

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