Compound variants of <scp> FKTN </scp> , <scp> POMGNT1 </scp> , and <scp> LAMB1 </scp> gene identified by prenatal whole‐exome sequencing in three fetuses with congenital hydrocephalus-Reference-Cited by-同舟云学术

Compound variants of FKTN , POMGNT1 , and LAMB1 gene identified by prenatal whole‐exome sequencing in three fetuses with congenital hydrocephalus

Published:2022-07-17 Issue:10 Volume:48 Page:2624-2629
ISSN:1341-8076
Container-title:Journal of Obstetrics and Gynaecology Research
language:en
Short-container-title:J of Obstet and Gynaecol

Author:

Li Meng¹²^ORCID,Fu Huayu¹²,Li Jiao¹²,Meng Dahua¹²,Zhang Qiang¹³,Fei Dongmei¹³

Affiliation:

1. Guangxi Center for Birth Defects Research and Prevention Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region Nanning Guangxi P.R. China

2. Department of Clinical Genetics Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region Nanning Guangxi P.R. China

3. Department of Genetic and Metabolic Central Laboratory Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region Nanning Guangxi P.R. China

Publisher

Wiley

Subject

Obstetrics and Gynecology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/jog.15358

Reference15 articles.

1. Global hydrocephalus epidemiology and incidence: systematic review and meta-analysis

2. Congenital Hydrocephalus

3. Genomics of human congenital hydrocephalus

4. Exome sequencing for perinatal phenotypes: The significance of deep phenotyping

5. Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness

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1. The homozygous pathogenic variant of the POMGNT1 gene identified using whole-exome sequencing in Iranian family with congenital hydrocephalus;Egyptian Journal of Medical Human Genetics;2024-03-26

2. Novel homozygous LAMB1 in‐frame deletion in a pediatric patient with brain anomalies and cerebrovascular event;American Journal of Medical Genetics Part A;2023-07-19