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Management of symptomatic mucosal involvement in paediatric pachyonychia congenita

British journal of dermatology (1951), 2020-03, Vol.182 (3), p.536-537

2020

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Pachyonychia congenita: a case report of a successful treatment with rosuvastatin in a patient with a KRT6A mutation

British journal of dermatology (1951), 2019-09, Vol.181 (3), p.584-586

2019

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Genotype–phenotype correlation in a large English cohort of patients with autosomal recessive ichthyosis

British journal of dermatology (1951), 2020-03, Vol.182 (3), p.729-737

2020

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LB977 Whole-transcriptome Sequencing Determines Host Genetic and Microbial Determinants of Skin Lesions in Patients with Persistent Cutaneous Infections

Journal of investigative dermatology, 2024-08, Vol.144 (8), p.S172-S172

2024

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Expanding mutation landscape and phenotypic spectrum of autosomal recessive congenital ichthyosis

British journal of dermatology (1951), 2017-08, Vol.177 (2), p.342-343

2017

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GGCX mutations in a patient with overlapping pseudoxanthoma elasticum/cutis laxa‐like phenotype

British journal of dermatology (1951), 2021-06, Vol.184 (6), p.1170-1174

2021

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Erythrokeratoderma: a manifestation associated with multiple types of ichthyoses with different gene defects

British journal of dermatology (1951), 2018-03, Vol.178 (3), p.e219-e221

2018

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Ichthyosis, psoriasiform dermatitis, and recurrent fungal infections in patients with biallelic mutations in PERP

Journal of the European Academy of Dermatology and Venereology, 2022-03, Vol.36 (3), p.472-479

2022

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Novel splice mutation in CDSN gene causing type b peeling skin syndrome

Journal of the European Academy of Dermatology and Venereology, 2022-06, Vol.36 (6), p.e456-e460

2022

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Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation

British journal of dermatology (1951), 2017-07, Vol.177 (1), p.319-322

2017

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Phenotypic heterogeneity in PIK3CA-related overgrowth spectrum

British journal of dermatology (1951), 2016-10, Vol.175 (4), p.810-814

2016

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A study of gene mutations and how they relate to the different types of ichthyosis

British journal of dermatology (1951), 2020-03, Vol.182 (3), p.e101-e101

2020

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一项关于基因突变及其与不同鱼鳞病类型相关性的研究

British journal of dermatology (1951), 2020-03, Vol.182 (3), p.e114-e114

2020

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Seven novel COL7A1 mutations identified in patients with recessive dystrophic epidermolysis bullosa from Mexico

Clinical and experimental dermatology, 2018-07, Vol.43 (5), p.579-584

2018

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Infantile systemic hyalinosis in an Iranian family with a mutation in the CMG2/ANTXR2 gene

Clinical and experimental dermatology, 2015-08, Vol.40 (6), p.636-639

2015

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First report of COL7A1 mutations in two patients with recessive dystrophic epidermolysis bullosa from Peru

Clinical and experimental dermatology, 2018-08, Vol.43 (6), p.719-722

2018

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307 Phenotypic-genotypic expansion of plectinopathy in a patient with muscular dystrophy and immune-mediated myasthenia gravis

Journal of investigative dermatology, 2022-12, Vol.142 (12), p.S233-S233

2022

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258 Prevalence of autosomal recessive genodermatoses: Determination based on pathogenic sequence variants in publicly available exomic and genomic databases

Journal of investigative dermatology, 2022-08, Vol.142 (8), p.S44

2022

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Molecular Genetics of Keratinization Disorders - What's New About Ichthyosis

Acta dermato-venereologica, 2020-03, Vol.100 (7), p.adv00095-185

2020

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876 Loss-of-function EGFR mutation in bartter syndrome with neonatal epithelial autoinflammation

Journal of investigative dermatology, 2023-05, Vol.143 (5), p.S150-S150

2023

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044 Metatranscriptomics reveals association of α-, β-, and γ-HPVs with typical epidermodysplasia verruciformis in a large cohort of patients with CIB1, TMC6, or TMC8 mutations

Journal of investigative dermatology, 2022-12, Vol.142 (12), p.S188-S188

2022

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495 Mutations in different domains of bullous pemphigoid antigen-1 (BPGA1) encoded by DST result in either epidermolysis bullosa simplex or musculoskeletal and neuronal deformities-associated HSAN-VI

Journal of investigative dermatology, 2022-08, Vol.142 (8), p.S84

2022

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494 Epidermolysis bullosa pruriginosa, muscular dystrophy, and immune-mediated myasthenia gravis in a patient with homozygous nonsense PLEC mutation

Journal of investigative dermatology, 2022-08, Vol.142 (8), p.S84

2022

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309 Losartan treatment improves recessive dystrophic Epidermolysis bullosa

Journal of investigative dermatology, 2022-08, Vol.142 (8), p.S53

2022

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301 The Spectrum of PLEC Sequence Variants and Related Plectinopathies Including Novel Association with Epidermolysis Bullosa Pruriginosa

Journal of investigative dermatology, 2022-12, Vol.142 (12), p.S232-S232

2022

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Management of symptomatic mucosal involvement in paediatric pachyonychia congenita

Pachyonychia congenita: a case report of a successful treatment with rosuvastatin in a patient with a KRT6A mutation

Genotype–phenotype correlation in a large English cohort of patients with autosomal recessive ichthyosis

LB977 Whole-transcriptome Sequencing Determines Host Genetic and Microbial Determinants of Skin Lesions in Patients with Persistent Cutaneous Infections

Expanding mutation landscape and phenotypic spectrum of autosomal recessive congenital ichthyosis

GGCX mutations in a patient with overlapping pseudoxanthoma elasticum/cutis laxa‐like phenotype

Erythrokeratoderma: a manifestation associated with multiple types of ichthyoses with different gene defects

Ichthyosis, psoriasiform dermatitis, and recurrent fungal infections in patients with biallelic mutations in PERP

Novel splice mutation in CDSN gene causing type b peeling skin syndrome

Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation

Phenotypic heterogeneity in PIK3CA-related overgrowth spectrum

A study of gene mutations and how they relate to the different types of ichthyosis

一项关于基因突变及其与不同鱼鳞病类型相关性的研究

Seven novel COL7A1 mutations identified in patients with recessive dystrophic epidermolysis bullosa from Mexico

Infantile systemic hyalinosis in an Iranian family with a mutation in the CMG2/ANTXR2 gene

First report of COL7A1 mutations in two patients with recessive dystrophic epidermolysis bullosa from Peru

307 Phenotypic-genotypic expansion of plectinopathy in a patient with muscular dystrophy and immune-mediated myasthenia gravis

258 Prevalence of autosomal recessive genodermatoses: Determination based on pathogenic sequence variants in publicly available exomic and genomic databases

Molecular Genetics of Keratinization Disorders - What's New About Ichthyosis

876 Loss-of-function EGFR mutation in bartter syndrome with neonatal epithelial autoinflammation

044 Metatranscriptomics reveals association of α-, β-, and γ-HPVs with typical epidermodysplasia verruciformis in a large cohort of patients with CIB1, TMC6, or TMC8 mutations

495 Mutations in different domains of bullous pemphigoid antigen-1 (BPGA1) encoded by DST result in either epidermolysis bullosa simplex or musculoskeletal and neuronal deformities-associated HSAN-VI

494 Epidermolysis bullosa pruriginosa, muscular dystrophy, and immune-mediated myasthenia gravis in a patient with homozygous nonsense PLEC mutation

309 Losartan treatment improves recessive dystrophic Epidermolysis bullosa

301 The Spectrum of PLEC Sequence Variants and Related Plectinopathies Including Novel Association with Epidermolysis Bullosa Pruriginosa

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