Article

Molecular analysis of inherited disorders of cornification in Polish patients show novel variants and functional data and provokes questions on the significance of secondary findings.

2024-03-11

Abstract excerpt

<title>Abstract</title> <p><bold>Background</bold>: The Mendelian Disorders of Cornification (MeDOC) comprise a large number of disorders that are manifested by either localised (palmoplantar keratoderma, PPK) or generalised (ichthyoses) symptoms. The MeDOC are highly heterogenic in terms of genetics and phenotype. Consequently, diagnostic process is challenging and before implementation of the next generation se...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 565b9cb1-28bc-55ca-91e5-b5af7a02f2de
DOI: 10.21203/rs.3.rs-3826420/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Molecular analysis of inherited disorders of cornification in Polish patients show novel variants and functional data and provokes questions on the significance of secondary findings.DOI 10.21203/rs.3.rs-3826420/v1Read

Molecular analysis of inherited disorders of cornification in polish patients show novel variants and functional data and provokes questions on the significance of secondary findings.Semantic proximity Read

Genetics of Inherited Ichthyoses and Related Diseases.Semantic proximity Read

[Epidermal barrier - molecular structure and disorders in selected ichthyoses].Semantic proximity Read

Inherited ichthyoses/generalized Mendelian disorders of cornification.Semantic proximity Read

Recent advances in understanding inherited disorders of keratinizationSemantic proximity Read

Molecular genetics of the inherited disorders of cornification: an update.Semantic proximity Read

Ichthyosis update: towards a function-driven model of pathogenesis of the disorders of cornification and the role of corneocyte proteins in these disorders.Semantic proximity Read

Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype-phenotype correlation.Semantic proximity Read

The human epidermal differentiation complex: cornified envelope precursors, S100 proteins and the ‘fused genes’ familySemantic proximity Read

Identification of Pathogenic Variants in CYP4F22, FLG, ALOX12B, and NIPAL4 in a Case Series of Inherited Ichthyosis.Semantic proximity Read

Large-scale identification of human genes implicated in epidermal barrier functionSemantic proximity Read