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Data · dataset · 2022

A unique skin phenotype resulting from heterozygous deletion of six keratin genes

Listed in Teesside University Research Data Repository

Pachyonychia congenita (PC) is a rare autosomal dominant disorder featuring palmoplantar keratoderma, nail dystrophy, oral leukokeratosis, follicular cysts and natal teeth.

Description

PC is caused by mutations in KRT6A, KRT6B, KRT6C, KRT16 or KRT17 genes. Here we aimed to identify the genetic basis of an atypical PC case.

We conducted whole exome sequencing (WES) in affected individual and his healthy parents. This data set includes the WES analysis results.

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Where it is published

Catalogue records · 1

Topics

From keywords
Earth & Environmental Science
Inferred from text
Sequencing 75%
Provenance · 1 source records, 7 field assertions
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Teesside University Research Data Repositoryoai:data.mendeley.com/2kk4c3ctzg.118 h agoJSON v1
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concepts[modality].local:modality:sequencingenrichment · researchdata tees ac ukkeyword-concept-rules@1.0.0title+description (75%)
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