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Article

A Missense Mutation within the Helix Termination Motif of KRT25 Causes Autosomal Dominant Woolly Hair/Hypotrichosis

9 Sept 2017

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 28899683
DOI: 10.1016/j.jid.2017.08.035

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Related research

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Research trail→

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A Missense Mutation within the Helix Termination Motif of KRT25 Causes Autosomal Dominant Woolly Hair/HypotrichosisPMID 28899683Read ↗

A Homozygous Missense Variant in K25 Underlying Overlapping Phenotype with Woolly Hair and Dental Anomalies.Semantic proximity Read ↗

Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosisSemantic proximity Read ↗

A novel threonine to proline mutation in the helix termination motif of keratin 1 in epidermolytic hyperkeratosis with severe palmoplantar hyperkeratosis and contractures of the digits.Semantic proximity Read ↗

A novel mutation in the helix termination motif of keratin K12 in a US family with Meesmann corneal dystrophySemantic proximity Read ↗

Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families.Semantic proximity Read ↗

Novel de novo mutation in KRT14 underlies a localized form of epidermolysis bullosa simplex.Semantic proximity Read ↗

A novel monilethrix mutation in coil 2A of KRT86 causing autosomal dominant monilethrix with incomplete penetrance.Semantic proximity Read ↗

In-frame Exon Skipping in KRT5 due to Novel Intronic Deletion Causes Epidermolysis Bullosa Simplex, Generalized Severe.Semantic proximity Read ↗

A novel KRT14 null mutation leads to autosomal recessive epidermolysis bullosa simplex.Semantic proximity Read ↗

A novel mutation in the helix termination peptide of keratin 5 causing epidermolysis bullosa simplex Dowling-Meara.Semantic proximity Read ↗

Autosomal recessive transmission of a rare KRT74 variant causes hair and nail ectodermal dysplasia: allelism with dominant woolly hair/hypotrichosis.Semantic proximity Read ↗

Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles.Semantic proximity Read ↗

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