Literature DB >> 21530180

Novel point mutation in the STS gene in a patient with X-linked recessive ichthyosis.

Mårten C G Winge, Torborg Hoppe, Agne Liedén, Magnus Nordenskjöld, Anders Vahlquist, Carl-Fredrik Wahlgren, Hans Törmä, Maria Bradley, Berit Berne.   

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Year:  2011        PMID： 21530180     DOI： 10.1016/j.jdermsci.2011.03.011

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


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  4 in total

1.  Pre-Descemet corneal dystrophy and X-linked ichthyosis associated with deletion of Xp22.31 containing the STS gene.

Authors:  Crystal Hung; Reed I Ayabe; Cynthia Wang; Ricardo F Frausto; Anthony J Aldave
Journal:  Cornea       Date:  2013-09       Impact factor: 2.651

2.  Filaggrin genotype determines functional and molecular alterations in skin of patients with atopic dermatitis and ichthyosis vulgaris.

Authors:  Mårten C G Winge; Torborg Hoppe; Berit Berne; Anders Vahlquist; Magnus Nordenskjöld; Maria Bradley; Hans Törmä
Journal:  PLoS One       Date:  2011-12-02       Impact factor: 3.240

3.  Very High Dehydroepiandrosterone Sulfate (DHEAS) in Serum of an Overweight Female Adolescent Without a Tumor.

Authors:  Daniel I Iliev; Regina Braun; Alberto Sánchez-Guijo; Michaela Hartmann; Stefan A Wudy; Doreen Heckmann; Gernot Bruchelt; Anika Rösner; Gary Grosser; Joachim Geyer; Gerhard Binder
Journal:  Front Endocrinol (Lausanne)       Date:  2020-05-06       Impact factor: 5.555

4.  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
  4 in total

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