Work

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

Year: 2026

Type: article

Study design: Case Report

Source: American Journal of Medical Genetics Part A

DOI: 10.1002/ajmga.70048

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

Institutions: New York University, Indiana University Indianapolis, Indiana University School of Medicine, Yale University, Fordham University

Language: English

Topic: Hair Growth and Disorders

Subfield: Urology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W7123399997

FWCI:

Cites: 11

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