Literature DB >> 21985695

Clinically manifest X-linked recessive ichthyosis in a female due to a homozygous interstitial 1·6-Mb deletion of Xp22.31.

I F Nagtzaam, A P A Stegmann, P M Steijlen, J Herbergs, J A Van Lent-Albrechts, M Van Geel, M A M Van Steensel.   

Abstract

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Year:  2012        PMID： 21985695     DOI： 10.1111/j.1365-2133.2011.10685.x

Source DB:  PubMed          Journal:  Br J Dermatol        ISSN： 0007-0963            Impact factor:   9.302


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  3 in total

Review 1.  Role of cholesterol sulfate in epidermal structure and function: lessons from X-linked ichthyosis.

Authors:  Peter M Elias; Mary L Williams; Eung-Ho Choi; Kenneth R Feingold
Journal:  Biochim Biophys Acta       Date:  2013-11-27

Review 2.  Prenatal Diagnosis and Molecular Cytogenetic Characterization of Copy Number Variations on 4p15.2p16.3, Xp22.31, and 12p11.1q11 in a Fetus with Ultrasound Anomalies: A Case Report and Literature Review.

Authors:  Han Zhang; Qi Xi; Xiangyin Liu; Fagui Yue; Hongguo Zhang; Meiling Sun; Ruizhi Liu
Journal:  Biomed Res Int       Date:  2020-05-27       Impact factor: 3.411

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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