Literature DB >> 26421812

X-linked ichthyosis in a patient with a novel nonsense mutation in the STS gene.

Maria del Refugio Rivera Vega1, Mauricio R Murillo-Vilches1, Jaime Toral-Lopez2, Etna Guerrero Sanchez3, Andres Tirado Sanchez3, Luz M González-Huerta4, Sergio A Cuevas-Covarrubias5.   

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Year:  2015        PMID： 26421812     DOI： 10.1016/j.jdermsci.2015.09.004

Source DB:  PubMed          Journal:  J Dermatol Sci        ISSN： 0923-1811            Impact factor:   4.563


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  3 in total

Review 1.  Recent advances in understanding ichthyosis pathogenesis.

Authors:  Nareh V Marukian; Keith A Choate
Journal:  F1000Res       Date:  2016-06-24

2.  Exacerbation of ichthyosis vulgaris phenotype by co-inheritance of STS and FLG mutations in a Chinese family with ichthyosis: a case report.

Authors:  Xiong Wang; Lu Tan; Na Shen; Yanjun Lu; Ying Zhang
Journal:  BMC Med Genet       Date:  2018-07-18       Impact factor: 2.103

3.  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
  3 in total

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