Perinatal lethal form Gaucher disease with compound heterozygosity of single nucleotide variants and copy number variations presenting as nonimmune hydrops fetalis and cerebellar hypoplasia: A case report-Reference-Cited by-同舟云学术

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Perinatal lethal form Gaucher disease with compound heterozygosity of single nucleotide variants and copy number variations presenting as nonimmune hydrops fetalis and cerebellar hypoplasia: A case report

Published:2024-09 Issue:5 Volume:63 Page:771-776
ISSN:1028-4559
Container-title:Taiwanese Journal of Obstetrics and Gynecology
language:en
Short-container-title:Taiwanese Journal of Obstetrics and Gynecology

Author:

Hsu Chin-Chieh,Lee Ni-Chung,Chien Yin-Hsiu,Liu Chao-Fan,Chang Yao-Lung

Publisher

Elsevier BV

Reference26 articles.

1. A system-based approach to the genetic etiologies of non-immune hydrops fetalis;Mardy;Prenat Diagn,2019

2. Nonimmune hydrops fetalis: genetic analysis and clinical outcome;Deng;Prenat Diagn,2020

3. Etiology and outcome of non-immune hydrops fetalis in southern China: report of 1004 cases;Meng;Sci Rep,2019

4. How to choose a test for prenatal genetic diagnosis: a practical overview;Sparks;Am J Obstet Gynecol,2022

5. Accurate molecular diagnosis of gaucher disease using clinical exome sequencing as a first-tier test;Zampieri;Int J Mol Sci,2021

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