Next Generation Sequencing Uncovers a Rare Case of X-linked Ichthyosis in an Adopted Girl Homozygous for a Novel Nonsense Mutation in the STS Gene

Next Generation Sequencing Uncovers a Rare Case of X-linked Ichthyosis in an Adopted Girl Homozygous for a Novel Nonsense Mutation in the STS Gene

Bibliographic Details
Main Authors: Andrea Diociaiuti, Adriano Angioni, Elisa Pisaneschi, Maria Margollicci, Renata Boldrini, Viola Alesi, Antonio Novelli, Giovanna Zambruno, May El Hachem
Format: Article
Language:English
Published: Society for Publication of Acta Dermato-Venereologica 2019-05-01
Series:Acta Dermato-Venereologica
Subjects:
X-linked ichthyosis
female
high-throughput nucleotide sequencing
Online Access: https://www.medicaljournals.se/acta/content/html/10.2340/00015555-3162
Description
ISSN:0001-5555
1651-2057

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