Literature DB >> 30834456

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.

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

Abstract

Entities:  

Keywords:  female; high-throughput nucleotide sequencing; X-linked ichthyosis

Year:  2019        PMID： 30834456     DOI： 10.2340/00015555-3162

Source DB:  PubMed          Journal:  Acta Derm Venereol        ISSN： 0001-5555            Impact factor:   4.437


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  2 in total

1.  A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients.

Authors:  Sibtain Afzal; Khushnooda Ramzan; Sajjad Ullah; Salma M Wakil; Arshad Jamal; Sulman Basit; Ahmed Bilal Waqar
Journal:  BMC Med Genet       Date:  2020-01-31       Impact factor: 2.103

2.  X-linked recessive ichthyosis in 8 Tunisian patients: awareness of misdiagnosis due to the technical trap of the STS pseudogene.

Authors:  Hamza Chouk; Sarra Saad; Sarra Dimassi; Nadia Ghariani Fetoui; Ayda Bennour; Rima Gammoudi; Haifa Elmabrouk; Ali Saad; Mohamed Denguezli; Dorra H'mida
Journal:  BMC Med Genomics       Date:  2022-07-26       Impact factor: 3.622
  2 in total

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