Trichothiodystrophy type 4 in an Indian family
Author:
Affiliation:
1. Department of Medical Genetics, Kasturba Medical College, Manipal Manipal Academy of Higher Education Manipal India
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61794
Reference11 articles.
1. Mutations in theC7orf11(TTDN1) gene in six nonphotosensitive trichothiodystrophy patients: no obvious genotype-phenotype relationships
2. Novel and recurrent mutations in WISP3 and an atypical phenotype
3. A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A
4. The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function
5. Mutations in the TTDN1 Gene Are Associated with a Distinct Trichothiodystrophy Phenotype
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1. A Young Boy with Brittle Hair;Case Reports in Dermatology;2022-06-28
2. A rare case in a child with mild trichothiodystrophy associated with ERCC2 gene;Indian Journal of Ophthalmology - Case Reports;2022
3. A novel MPLKIP ‐variant in three Finnish patients with non‐photosensitive trichothiodystrophy type 4;American Journal of Medical Genetics Part A;2021-03-17
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