Prenatal Diagnosis of Walker–Warburg Syndrome Using Single Nucleotide Polymorphism Array: A Clinical Experience from Three Related Palestinian Families with Congenital Hydrocephalus-Reference-Cited by-同舟云学术

Prenatal Diagnosis of Walker–Warburg Syndrome Using Single Nucleotide Polymorphism Array: A Clinical Experience from Three Related Palestinian Families with Congenital Hydrocephalus

Published:2015-04-27 Issue:02 Volume:05 Page:e116-e120
ISSN:2157-6998
Container-title:American Journal of Perinatology Reports
language:en
Short-container-title:AJP Rep

Author:

Al Sulmi Eman¹,Chodirker Bernard²,Hunt Jennifer¹,Abumansour Iman²

Affiliation:

1. Section of Maternal Fetal Medicine, Department of Obstetrics, Gynecology and Reproductive Sciences, University of Manitoba, Winnipeg, Manitoba, Canada

2. Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, Manitoba, Canada

Publisher

Georg Thieme Verlag KG

Subject

Obstetrics and Gynaecology,Pediatrics, Perinatology, and Child Health

Link

http://www.thieme-connect.de/products/ejournals/pdf/10.1055/s-0035-1549298.pdf

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1. Fetal Presentation of Walker-Warburg Syndrome with Compound Heterozygous POMT2 Missense Mutations;Fetal and Pediatric Pathology;2022-09-01

2. Prenatal presentation of Walker–Warburg syndrome with a POMT2 mutation: an extended fetal phenotype;Egyptian Journal of Medical Human Genetics;2020-11-23

3. Phenotypic heterogeneity of POMT2 gene variants;American Journal of Medical Genetics Part A;2017-12-28

4. Cystic kidneys in fetal Walker–Warburg syndrome with POMT2 mutation: Intrafamilial phenotypic variability in four siblings and review of literature;American Journal of Medical Genetics Part A;2017-08-17

5. Prenatal homozygosity mapping detects a novel mutation in CHST3 in a fetus with skeletal dysplasia and joint dislocations;Clinical Case Reports;2017-03-01