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Article

A novel mutation in POFUT1 gene associated with Dowling-Degos disease and hidradenitis suppurativa.

International journal of dermatology - 1 Jan 2021

García-Gil Miguel Fernando, Monte Serrano Juan, Ramirez-Lluch Mar, Valero Torres Alberto, López-Giménez María Teresa, Lezcano Biosca Victoria

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32767357
DOI: 10.1111/ijd.15092

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Related research

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A novel mutation in POFUT1 gene associated with Dowling-Degos disease and hidradenitis suppurativa.PMID 32767357Read ↗

Atypical presentation of Dowling-Degos disease with novel and recurrent mutations in POFUT1.Semantic proximity Read ↗

Analysis of POFUT1 gene mutation in a Chinese family with Dowling-Degos disease.Semantic proximity Read ↗

Mutations in POFUT1, Encoding Protein O-fucosyltransferase 1, Cause Generalized Dowling-Degos DiseaseSemantic proximity Read ↗

A case report of Dowling-Degos disease caused by POFUT1 exon deletion with possible coexistent CARD14 mutation-related psoriasis.Semantic proximity Read ↗

Novel POFUT1 mutation associated with hidradenitis suppurativa–Dowling–Degos disease firm up a role for Notch signalling in the pathogenesis of this disorderSemantic proximity Read ↗

Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease.Semantic proximity Read ↗

The clinical presentation of DFNA15/POU4F3.Semantic proximity Read ↗

Variant in human POFUT1 reduces enzymatic activity and likely causes a recessive microcephaly, global developmental delay with cardiac and vascular features.Semantic proximity Read ↗

Genome-wide linkage and exome sequencing analyses identify an initiation codon mutation of KRT5 in a unique Chinese family with generalized Dowling-Degos disease.Semantic proximity Read ↗

Dowling‐Degos disease: a reviewSemantic proximity Read ↗

Dowling-Degos disease with mutation in the exon 1 of the keratin 5 gene.Semantic proximity Read ↗

Mutations in POFUT1, encoding protein O-fucosyltransferase 1, cause generalized Dowling-Degos disease.Semantic proximity Read ↗

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