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Article

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

14 Jan 2014

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Identifiers

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

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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 patientPMID 24480088Read ↗

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

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

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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 ↗

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

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

X-linked ichthyosis: Molecular findings in four pedigrees with inconspicuous clinical manifestations.Semantic proximity Read ↗

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

Revisiting X-linked congenital ichthyosis.Semantic proximity Read ↗

[Identification of gene mutation and prenatal diagnosis in a family with X-linked ichthyosis].Semantic proximity Read ↗

Novel Microdeletion in the X Chromosome Leads to Kallmann Syndrome, Ichthyosis, Obesity, and StrabismusSemantic proximity Read ↗

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