Lysosomal storage disorders in nonimmune hydrops fetalis diagnosed by exome sequencing

Lysosomal storage disorders in nonimmune hydrops fetalis diagnosed by exome sequencing

Abstract Lysosomal storage disorders (LSD) are a group of inherited metabolic diseases that contribute to nonimmune hydrops fetalis (NIHF). Our objective was to review the pooled exome sequencing (ES) diagnostic yield of LSD in NIHF cases. We expanded our previous meta-analysis and updated our searc...

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Bibliographic Details
Main Authors: Mona M. Makhamreh, Kavya Shivashankar, Stephanie M. Rice, Sascha Wodoslawsky, Christina Grant, Rodney McLaren, Seth I. Berger, Huda B. Al-Kouatly
Format: Article
Language:English
Published: BMC 2025-07-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Exome
Lysosomal storage disorders
Hydrops fetalis
Online Access:https://doi.org/10.1186/s13023-025-03851-9
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