A novel biallelic loss-of-function variant inDAND5causes heterotaxy syndrome
Work
Year: 2022
Type: article
Abstract: The majority of heterotaxy cases do not obtain a molecular diagnosis, although pathogenic variants in more than 50 genes are known to cause heterotaxy. A heterozygous missense variant in DAND5 , a nod... more
Source: Molecular Case Studies
Authors Mythily Ganapathi, Christie M. Buchovecky, Fernando Cristo, Priyanka Ahimaz, Carrie Ruzal‐Shapiro +5 more
Cites: 11
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Related to: 10
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Citation percentile (by year/subfield):
Subfield: Immunology and Allergy
Field: Medicine
Domain: Health Sciences
Open Access status: gold