Wiedemann–Rautenstrauch syndrome in an Indian patient with biallelic pathogenic variants in POLR3A
Author:
Affiliation:
1. Department of Medical Genetics Kasturba Medical College, Manipal, Manipal Academy of Higher Education Manipal India
Funder
National Institutes of Health
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62115
Reference11 articles.
1. The Wiedemann-Rautenstrauch or neonatal progeroid syndrome
2. De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction
3. Whole exome sequencing identifies de novo heterozygousCAV1mutations associated with a novel neonatal onset lipodystrophy syndrome
4. De novo heterozygousFBN1mutations in the extreme C-terminal region cause progeroid fibrillinopathy
5. The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function
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1. Developmental regression and movement disorder as a phenotypic variant of POLR3A Mutation—Case report;Clinical Case Reports;2022-11
2. Skin Conditions and Movement Disorders: Hiding in Plain Sight;Movement Disorders Clinical Practice;2022-03-24
3. Distinguishing severe phenotypes associated with pathogenic variants in POLR3A;American Journal of Medical Genetics Part A;2021-11-12
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