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

Fuente: Wiley Open Access
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Bibliographic Details
Main Authors: Rachel Rabin, Kevin T. A. Booth, Shawn E. Cowper, Keith Choate, Berish Y. Rubin, Joseph Ekstein, John Pappas, Yoel Hirsch
Format: Artículo Open Access
Published: Wiley 2026
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