Sirpa Kivirikko

Helsinki, Finland

Last Updated: 09/26/2026

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Found 17 publications

The HRAS Variant c.175G>A (p.Ala59Thr) Causes a Predominantly Ectodermal Phenotype Lacking Classic Costello Syndrome Features.

The HRAS Variant c.175G>A (p.Ala59Thr) Causes a Predominantly Ectodermal Phenotype Lacking Classic Costello Syndrome Features.

Journal: American journal of medical genetics. Part A

Published: July 10, 2025

SERPINB8-associated peeling skin with palmoplantar keratoderma-A new variant and phenotypic expansion.

SERPINB8-associated peeling skin with palmoplantar keratoderma-A new variant and phenotypic expansion.

Journal: Journal of the European Academy of Dermatology and Venereology : JEADV

Published: April 26, 2025

Correction to: Assessment of gene-disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA.

Correction to: Assessment of gene-disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA.

Journal: Orphanet journal of rare diseases

Published: October 07, 2024

Genome sequencing reveals CCDC88A variants in malformations of cortical development and immune dysfunction.

Genome sequencing reveals CCDC88A variants in malformations of cortical development and immune dysfunction.

Journal: Human molecular genetics

Published: April 22, 2024

Assessment of gene-disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA.

Assessment of gene-disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA.

Journal: Orphanet journal of rare diseases

Published: December 12, 2023

A novel SERPINA12 variant and first European patients with diffuse palmoplantar keratoderma.

A novel SERPINA12 variant and first European patients with diffuse palmoplantar keratoderma.

Journal: Journal of the European Academy of Dermatology and Venereology : JEADV

Published: March 05, 2023

Hereditary palmoplantar keratoderma - phenotypes and mutations in 64 patients.

Hereditary palmoplantar keratoderma - phenotypes and mutations in 64 patients.

Journal: Journal of the European Academy of Dermatology and Venereology : JEADV

Published: February 08, 2021

De novo SPTAN1 mutation in axonal sensorimotor neuropathy and developmental disorder.

De novo SPTAN1 mutation in axonal sensorimotor neuropathy and developmental disorder.

Journal: Brain : a journal of neurology

Published: November 18, 2020

Recessive MYH3 variants cause "Contractures, pterygia, and variable skeletal fusions syndrome 1B" mimicking Escobar variant multiple pterygium syndrome.

Recessive MYH3 variants cause "Contractures, pterygia, and variable skeletal fusions syndrome 1B" mimicking Escobar variant multiple pterygium syndrome.

Journal: American journal of medical genetics. Part A

Published: February 21, 2020

Phenotypic Variability with SLURP1 Mutations and Diffuse Palmoplantar Keratoderma.

Phenotypic Variability with SLURP1 Mutations and Diffuse Palmoplantar Keratoderma.

Journal: Acta dermato-venereologica

Published: January 16, 2020

Chorea-acanthocytosis associated with two novel heterozygous mutations in the VPS13A gene.

Chorea-acanthocytosis associated with two novel heterozygous mutations in the VPS13A gene.

Journal: Journal of the neurological sciences

Published: August 23, 2019

Novel TMEM173 Mutation and the Role of Disease Modifying Alleles.

Novel TMEM173 Mutation and the Role of Disease Modifying Alleles.

Journal: Frontiers in immunology

Published: August 07, 2019

Showing 1-12 of 17

Last Updated: 09/26/2026