Associated Papers
Functional Characterization of a Novel In-Frame Indel and a Founder Variant in SERPINB7 Associated With Palmoplantar Keratoderma.
Liu J et al.
The Journal of Dermatology, 2026
Heterozygous Pathogenic Variants in SERPINB7 Potentially Associated With Concomitant Moyamoya Angiopathy and Nagashima-Type Palmoplantar Keratoderma.
Kazerooni L et al.
American Journal of Medical Genetics. Part A, 2025
A deep intronic founder variant in the SERPINB7 gene causing aberrant splicing is a potential therapeutic target for Nagashima-type palmoplantar keratoderma.
Chen Y et al.
Journal of Dermatological Science, 2025
Digenic Biallelic Variants in SERPINB7 and SERPINA12 in a Patient With a Severe Phenotype of Nagashima-Type Palmoplantar Keratosis.
Huang Z et al.
The Journal of Dermatology, 2025
Dupilumab treatment for Chinese Nagashima-type palmoplantar keratoderma associated with atopic dermatitis: a case report.
Hua C et al.
Frontiers in Immunology, 2025
Genetic analysis of seven patients with inherited ichthyosis and Nagashima‑type palmoplantar keratoderma.
Zhang J et al.
Molecular Medicine Reports, 2024
Potential digenic inheritance of SERPINB7 and SERPINA12 variants in Chinese patients with Nagashima-type palmoplantar keratosis.
Liu Y et al.
The British Journal of Dermatology, 2024
A novel SERPINA12 variant and first European patients with diffuse palmoplantar keratoderma.
Brandt E et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2024
Facioscapulohumeral muscular dystrophy type 1 combined with becker muscular dystrophy: a family case report.
Tan M et al.
Frontiers in Genetics, 2024
Investigation of Nagashima-type palmoplantar keratoderma in China: A cross-sectional study of 234 patients.
Liu J et al.
The Journal of Dermatology, 2023
Three new founder mutations in Chinese patients with Nagashima-type palmoplantar keratoderma.
Liu J et al.
The British Journal of Dermatology, 2022
Two novel mutations of SERPINB7 in eight cases of Nagashima-type palmoplantar keratosis in the Chinese population.
Xiao T et al.
The Journal of Dermatology, 2022
Nagashima-Type Palmoplantar Keratosis: Clinical Characteristics, Genetic Characterization, and Clinical Management.
Huang C et al.
Biomed Research International, 2021
Identification of a Rare Case With Nagashima-Type Palmoplantar Keratoderma and 18q Deletion Syndrome via Exome Sequencing and Low-Coverage Whole-Genome Sequencing.
Li Q et al.
Frontiers in Genetics, 2021
[Nagashima-type palmoplantar keratoderma: A little-known palmoplantar keratoderma in Europe].
Chassain K et al.
Annales De Dermatologie Et De Venereologie, 2019
Nagashima-type palmoplantar keratosis in a Chinese Han population.
Zhang J et al.
Molecular Medicine Reports, 2016
Nagashima-Type Palmoplantar Keratosis with Compound Heterozygous Mutations in SERPINB7.
Songsantiphap C et al.
Case Reports in Dermatology, 0