Cargando…

A novel mutation resulting in keratin 1–linked palmoplantar keratoderma with epidermolytic ichthyosis

Detalles Bibliográficos
Autores principales:	Gray, Taylor, White, Christopher, Farsi, Maheera, Dyer, Joseph, Miller, Richard
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2020
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7441875/ https://www.ncbi.nlm.nih.gov/pubmed/32864403 http://dx.doi.org/10.1016/j.jdcr.2020.08.016

Ejemplares similares

Keratin 9 L164P mutation in a Chinese pedigree with epidermolytic palmoplantar keratoderma, cytokeratin analysis, and literature review
por: Liu, Xiaoliang, et al.
Publicado: (2019)

Epidermolytic Ichthyosis without Keratin 1 or 10 Mutations: A Case Report
por: Al Raddadi, Ali A., et al.
Publicado: (2018)

CRISPR/Cas9-Mediated Treatment Ameliorates the Phenotype of the Epidermolytic Palmoplantar Keratoderma-like Mouse
por: Luan, Xiao-Rui, et al.
Publicado: (2018)

Epidermolytic Nevus: An Instance of Mosaic Epidermolytic Ichthyosis
por: Adya, Keshavmurthy A., et al.
Publicado: (2020)

Genetic Analysis of KRT9 Gene Revealed Previously Known Mutations and Genotype-Phenotype Correlations in Epidermolytic Palmoplantar Keratoderma
por: Li, Yuwei, et al.
Publicado: (2019)

Ichthyosis Follicularis with Alopecia and Photophobia Syndrome with Coexisting Palmoplantar Keratoderma Treated with Acitretin
por: Rajesh, Supriya, et al.
Publicado: (2022)

Exome sequencing identifies a KRT9 pathogenic variant in a Chinese pedigree with epidermolytic palmoplantar keratoderma
por: Li, Changxing, et al.
Publicado: (2019)

A novel nonsense mutation in keratin 10 causes a familial case of recessive epidermolytic ichthyosis
por: Gutierrez, Jeydith A, et al.
Publicado: (2013)

Annular epidermolytic ichthyosis: An exceptional mild subtype of epidermolytic ichthyosis without genotype and phenotype correlation
por: Reolid, Alejandra, et al.
Publicado: (2019)

Palmoplantar Keratoderma with Keratoconus
por: Gupta, Ved Prakash, et al.
Publicado: (2018)

Mosaic epidermolytic ichthyosis - Case report
por: Mendes, Marcela Sena Teixeira, et al.
Publicado: (2013)

A Small Indel Mutant Mouse Model of Epidermolytic Palmoplantar Keratoderma and Its Application to Mutant-specific shRNA Therapy
por: Lyu, Ya-Su, et al.
Publicado: (2016)

PIGO deficiency: palmoplantar keratoderma and novel mutations
por: Morren, Marie-Anne, et al.
Publicado: (2017)

A Case of Annular Epidermolytic Ichthyosis Resulting from a de Novo Mutation, p.I479T, in Keratin 1 Gene
por: Chen, Lihong, et al.
Publicado: (2021)

Palmoplantar keratoderma with dental abnormalities
por: Kaliyadan, Feroze, et al.
Publicado: (2014)

New and recurrent AAGAB mutations in punctate palmoplantar keratoderma
por: Pohler, E, et al.
Publicado: (2014)

Autoimmune Thyroiditis Presenting as Palmoplantar Keratoderma
por: Lestre, Sara, et al.
Publicado: (2010)

Diagnosis and Management of Inherited Palmoplantar Keratodermas
por: THOMAS, Bjorn R., et al.
Publicado: (2020)

Beneficial Impact of Apremilast on Palmoplantar Keratodermas
por: NAKAJIMA, Kimiko, et al.
Publicado: (2021)

Palmoplantar Keratoderma and Nail Involvement in an Adult
por: Sethia, Khushboo, et al.
Publicado: (2023)

Hereditary Palmoplantar Keratoderma and Deafness Resulting from Genetic Mutation of Connexin 26
por: Lee, Jae Yeol, et al.
Publicado: (2010)

Phenotypic Variability with SLURP1 Mutations and Diffuse Palmoplantar Keratoderma*
por: HARJAMA, Liisa, et al.
Publicado: (2020)

Palmoplantar keratoderma in Slurp2-deficient mice
por: Allan, Christopher M., et al.
Publicado: (2015)

The first Danish family reported with an AQP5 mutation presenting diffuse non-epidermolytic palmoplantar keratoderma of Bothnian type, hyperhidrosis and frequent Corynebacterium infections: a case report
por: Krøigård, Anne Bruun, et al.
Publicado: (2016)

Punctate Palmoplantar Keratoderma: A Case Report
por: Knowles, Ariel, et al.
Publicado: (2023)

Keratin 16 null mice develop palmoplantar keratoderma, a hallmark feature of pachyonychia congenita and related disorders
por: Lessard, Juliane C., et al.
Publicado: (2012)

Annular epidermolytic ichthyosis: a case report and literature review()()
por: Mikilita, Emanuella Stella, et al.
Publicado: (2020)

Deep Phenotyping of Superficial Epidermolytic Ichthyosis due to a Recurrent Mutation in KRT2
por: Suzuki, Yuika, et al.
Publicado: (2022)

Adult-onset familial palmoplantar keratoderma: An uncommon presentation
por: Goyal, Tarang, et al.
Publicado: (2016)

Hereditary Palmoplantar Keratoderma: A Practical Approach to the Diagnosis
por: Dev, Tanvi, et al.
Publicado: (2019)

Familiar palmoplantar keratoderma, flaccid blisters, and widespread scaling
por: Oliveira, Louise Makarem, et al.
Publicado: (2018)

Aquagenic palmoplantar keratoderma therapeutic response to topical glycopyrronium
por: Medhus, Emily J., et al.
Publicado: (2021)

Palmoplantar keratoderma: An unusual manifestation of hypohydrotic ectodermic dysplasia
por: Abdelli, Wissal, et al.
Publicado: (2022)

Bothnian Palmoplantar Keratoderma: Further Delineation of the Associated Phenotype
por: Fertitta, Laura, et al.
Publicado: (2022)

Identification of Distinct Mutations in AAGAB in Families with Type 1 Punctate Palmoplantar Keratoderma
por: Furniss, Megan, et al.
Publicado: (2014)

A novel mutation in the HPGD gene results in the unusual phenotype of palmoplantar keratoderma with digital clubbing and hyperhidrosis
por: Stephan, Carla, et al.
Publicado: (2018)

Aquagenic palmoplantar keratoderma with dorsal hand involvement in an adolescent female
por: Angra, Divya, et al.
Publicado: (2016)

Palmoplantar keratoderma as a presenting sign of primary biliary cirrhosis
por: Nadhan, Kumar S., et al.
Publicado: (2017)

Unilateral Linear Punctate Palmoplantar Keratoderma: A Case Report
por: Kiatsurayanon, Chanisa, et al.
Publicado: (2017)

Drugs Associated With the Development of Palmoplantar Keratoderma: A Systematic Review
por: Mirali, Sara, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_svmlsv63od7qk8fd90sv4gcegv