The Same Homozygous Pathogenic Variant in <i>CHAT</i> Underlies Lethal Fetal Akinesia Syndrome in Three Xhosa South African Fetuses

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Publication Details

Journal
Prenatal Diagnosis
Published
2026-07-22
DOI
https://doi.org/10.1002/pd.70220
Primary Topic
Metabolism and Genetic Disorders
Type
article
Field-Weighted Citation Impact
0.00
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article

The Same Homozygous Pathogenic Variant in CHAT Underlies Lethal Fetal Akinesia Syndrome in Three Xhosa South African Fetuses

Yolandi Swart, Kerry Rademan, Samantha Budhram, Shahida Moosa et al.
Prenatal Diagnosis
Metabolism and Genetic Disorders
article

The Same Homozygous Pathogenic Variant in CHAT Underlies Lethal Fetal Akinesia Syndrome in Three Xhosa South African Fetuses

Yolandi Swart, Kerry Rademan, Samantha Budhram, Shahida Moosa, L. Geerts, Cumine Van Tonder, Jade Ramini
article en

Abstract

No abstract available for this paper.
Prenatal Diagnosis
South African Medical Research Council (ZA), Western Cape Department of Health (ZA), Stellenbosch University (ZA), Tygerberg Hospital (ZA), Africa Health Research Institute (ZA)
Gender equality
Openalex Percentile: Top 11%
Metabolism and Genetic Disorders
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