Alrun Hotz

Freiburg, BW, Germany

Last Updated: 09/26/2026

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Found 30 publications

A second case of recessive mosaicism in ABCA12 causing a congenital unilateral epidermal nevus.

A second case of recessive mosaicism in ABCA12 causing a congenital unilateral epidermal nevus.

Journal: Clinical and experimental dermatology

Published: March 25, 2026

Genetic and Phenotypic Features of 2 Northern Italy Families with Dowling-Degos Disease Type 4.

Genetic and Phenotypic Features of 2 Northern Italy Families with Dowling-Degos Disease Type 4.

Journal: JID innovations : skin science from molecules to population health

Published: April 15, 2024

Erythrokeratodermia Variabilis-like Phenotype in Patients Carrying ABCA12 Mutations.

Erythrokeratodermia Variabilis-like Phenotype in Patients Carrying ABCA12 Mutations.

Journal: Genes

Published: January 19, 2024

Autosomal Dominant Lamellar Ichthyosis Due to a Missense Variant in the Gene NKPD1.

Autosomal Dominant Lamellar Ichthyosis Due to a Missense Variant in the Gene NKPD1.

Journal: The Journal of investigative dermatology

Published: January 15, 2024

Hereditary epidermolytic palmoplantar keratosis due to a novel desmoglein-1 mutation: A case report.

Hereditary epidermolytic palmoplantar keratosis due to a novel desmoglein-1 mutation: A case report.

Journal: Clinical case reports

Published: November 27, 2023

Pseudoainhum and universal alopecia.

Pseudoainhum and universal alopecia.

Journal: Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG

Published: July 11, 2023

Epidermolysis bullosa simplex caused by a rare homozygous mutation in the EXPH5 gene.

Epidermolysis bullosa simplex caused by a rare homozygous mutation in the EXPH5 gene.

Journal: Clinical and experimental dermatology

Published: April 19, 2023

Amino Acid Substitution in the Cysteine-Rich Region of the Integrin β4 Subunit Causes Late-Onset Mild Junctional Epidermolysis Bullosa without Extracutaneous Involvement.

Amino Acid Substitution in the Cysteine-Rich Region of the Integrin β4 Subunit Causes Late-Onset Mild Junctional Epidermolysis Bullosa without Extracutaneous Involvement.

Journal: The Journal of investigative dermatology

Published: February 08, 2023

Mutational Spectrum of the ABCA12 Gene and Genotype-Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis.

Mutational Spectrum of the ABCA12 Gene and Genotype-Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis.

Journal: Genes

Published: January 18, 2023

Obsessive-compulsive symptoms in ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome.

Obsessive-compulsive symptoms in ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome.

Journal: Journal of neural transmission (Vienna, Austria : 1996)

Published: July 30, 2022

Epidemiology of inherited epidermolysis bullosa in Germany.

Epidemiology of inherited epidermolysis bullosa in Germany.

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

Published: April 13, 2022

The Importance of Extended Analysis Using Current Molecular Genetic Methods Based on the Example of a Cohort of 228 Patients with Hereditary Breast and Ovarian Cancer Syndrome.

The Importance of Extended Analysis Using Current Molecular Genetic Methods Based on the Example of a Cohort of 228 Patients with Hereditary Breast and Ovarian Cancer Syndrome.

Journal: Genes

Published: September 03, 2021

Showing 1-12 of 30

Last Updated: 09/26/2026