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Article

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

Journal of dermatological science - 1 Jul 2011

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

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Share to Chromosomes, Human, X
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

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

Genes

STS

Provenance

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Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel point mutation in the STS gene in a patient with X-linked recessive ichthyosis.PMID 21530180Read ↗

X-linked ichthyosis in a patient with a novel nonsense mutation in the STS gene.Semantic proximity Read ↗

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 patientSemantic proximity Read ↗

Novel indel mutation of STS underlies a new phenotype of self-healing recessive X-linked ichthyosis.Semantic proximity Read ↗

Characterization of Point Mutations in Patients with X-linked IchthyosisSemantic proximity Read ↗

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.Semantic proximity Read ↗

Identification of point mutations in the steroid sulfatase gene of three patients with X-linked ichthyosis.Semantic proximity Read ↗

X-linked recessive ichthyosis in 8 Tunisian patients: awareness of misdiagnosis due to the technical trap of the STS pseudogeneSemantic proximity Read ↗

X-linked and autosomal dominant forms of the ichthyosis in coinheritance.Semantic proximity Read ↗

A novel STS mutation and an Xp22.3 microdeletion from one Chinese family with X-linked ichthyosisSemantic proximity Read ↗

Autosomal recessive congenital ichthyosis and congenital hypothyroidism in a Tunisian patient with a nonsense mutation in TGM1.Semantic proximity Read ↗

CO-OCCURRENCE OF PRIMARY MICROCEPHALY CAUSED BY A NOVEL HOMOZYGOUS ASPM MUTATION ALONG WITH X-LINKED ICHTHYOSIS IN THE SAME PATIENT.Semantic proximity Read ↗

Heterozygous KRT10 missense variant in a Chihuahua with severe epidermolytic ichthyosis.Semantic proximity Read ↗

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