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Article

Novel RNF113A Variant Underlying X-Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother.

American journal of medical genetics. Part A - 1 May 2026

Rabin Rachel, Booth Kevin T A, Cowper Shawn E, Choate Keith, Rubin Berish Y, Ekstein Joseph, Pappas John, Hirsch Yoel

Abstract excerpt

Trichothiodystrophies (TTDs) are a group of disorders that have been characterized by sparse, brittle, and sulfur deficient hair that showed a "tiger-tail" banding pattern. Though the majority of TTDs are inherited in an autosomal recessive pattern, RNF113A related trichothiodystrophy is X-linked. RNF113A-related TTD has been associated with a non-photosensitive trichothiodystrophy, characterized by intellectual...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41531333
DOI: 10.1002/ajmga.70048

Genes

RNF113A

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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Novel RNF113A Variant Underlying X-Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother.PMID 41531333Read ↗

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