Literature DB >> 24480088

Molecular study of X-linked ichthyosis: report of a novel 2-bp insertion mutation in the STS and a very rare case of homozygous female patient.

Ghulam Murtaza1, Sumaira Siddiq1, Suliman Khan1, Sofia Hussain1, Muhammad Naeem2.   

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Year:  2014        PMID： 24480088     DOI： 10.1016/j.jdermsci.2013.12.012

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


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  3 in total

1.  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

2.  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.  X-linked ichthyosis and Crigler-Najjar syndrome I: Coexistence in a male patient with two copy number variable regions of 2q37.1 and Xp22.3.

Authors:  Jinli Bai; Yujin Qu; Yanyan Cao; Yan Li; Wenhui Zhang; Yuwei Jin; Hong Wang; Fang Song
Journal:  Mol Med Rep       Date:  2015-12-10       Impact factor: 2.952
  3 in total

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