首页> Molecular genetics & genomic medicine> Compound heterozygous splicing variants in KIAA0586 cause fetal short-rib thoracic dysplasia and cerebellar malformation: Use of exome sequencing in prenatal diagnosis.

Compound heterozygous splicing variants in KIAA0586 cause fetal short-rib thoracic dysplasia and cerebellar malformation: Use of exome sequencing in prenatal diagnosis.

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第一作者： Qianying,Zhao

第一单位： Department of Obstetrics & Gynecology, West China Second University Hospital, Sichuan University, Chengdu, China.;Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, China.

作者： Qianying,Zhao ^[1] ; Bocheng,Xu ^[1] ; Qinqin,Xiang ^[1] ; Yu,Tan ^[1] ; Hanbing,Xie ^[1] ; Qianqian,Gao ^[2] ; Lingyi,Wen ^[3] ; He,Wang ^[1] ; Mei,Yang ^[1] ; Shanling,Liu ^[1]

作者单位： Department of Obstetrics & Gynecology, West China Second University Hospital, Sichuan University, Chengdu, China.;Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, China. ^[1] Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, China.;Department of Ultrasound, West China Second University Hospital, Sichuan University, Chengdu, China. ^[2] Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, China.;Department of Radiology, West China Second University Hospital, Sichuan University, Chengdu, China. ^[3]

关键词 KIAA0586 Joubert syndrome exome sequencing prenatal diagnosis short-rib thoracic dysplasia splicing variants

医学主题词畸形, 多发性(Abnormalities, Multiple);多指(趾)畸形(Polydactyly);胎儿(Fetus);妊娠(Pregnancy);小脑(Cerebellum);眼畸形(Eye Abnormalities);肾疾病, 囊性(Kidney Diseases, Cystic);产前诊断(Prenatal Diagnosis);骨软骨发育不良(Osteochondrodysplasias);视网膜(Retina);肋骨(Ribs);女(雌)性(Female);人类(Humans);杂合子(Heterozygote)

DOI 10.1002/mgg3.2124

PMID 36538006

发布时间 2024-09-14

基金项目

2021YFC1005303/National Key Research and Development Program of China 2021YFS0078/Program of Science and Technology Department of Sichuan Province

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Molecular genetics & genomic medicine

2023年11卷3期

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Compound heterozygous splicing variants in KIAA0586 cause fetal short-rib thoracic dysplasia and cerebellar malformation: Use of exome sequencing in prenatal diagnosis.

Molecular genetics & genomic medicine

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Compound heterozygous splicing variants in KIAA0586 cause fetal short-rib thoracic dysplasia and cerebellar malformation: Use of exome sequencing in prenatal diagnosis.

Molecular genetics & genomic medicine

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Molecular genetics & genomic medicine

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