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

Authors

  • Andrea Diociaiuti
  • Adriano Angioni
  • Elisa Pisaneschi
  • Maria Margollicci
  • Renata Boldrini
  • Viola Alesi
  • Antonio Novelli
  • Giovanna Zambruno
  • May El Hachem

DOI:

https://doi.org/10.2340/00015555-3162

Keywords:

X-linked ichthyosis, female, high-throughput nucleotide sequencing

Abstract

Abstract is missing (Short communication)

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Published

2019-05-08

How to Cite

Diociaiuti, A., Angioni, A., Pisaneschi, E., Margollicci, M., Boldrini, R., Alesi, V., … El Hachem, M. (2019). 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. Acta Dermato-Venereologica, 99(9), 828–830. https://doi.org/10.2340/00015555-3162

Issue

Section

Short Communication