ArticleCold Spring Harbor molecular case studies2021
Genome sequencing identifies three molecular diagnoses including a mosaic variant in the
Article in Cold Spring Harbor molecular case studies, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
4 citing papers in PubMed, 5 citations in OpenAlex.
- Rigorous genetic diagnosis review in natural history studies.Orphanet journal of rare diseases · 2026Article
- [Research advances in the clinical genetics of leukodystrophy in children].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2022Review
- A new variant of MYCN gene as a cause of Feingold syndrome.Clinical case reports · 2022Article
- A Novel Mutation c.3392G>T ofFrontiers in genetics · 2022Article
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Authors and funding
8 authors at 2 institutions in 1 country.
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Abstract
Undiagnosed genetic disease imposes a significant burden on families and health-care resources, especially in cases with a complex phenotype. Here we present a child with suspected leukodystrophy in the context of additional features, including hearing loss, clinodactyly, rotated thumbs, tapered fingers, and simplified palmar crease. Trio genome sequencing (GS) identified three molecular diagnoses in this individual: compound heterozygous missense variants associated with polymerase III (Pol III)-related leukodystrophy, a 4-Mb de novo copy-number loss including the
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