Cargando…

Phenotypic Variability with SLURP1 Mutations and Diffuse Palmoplantar Keratoderma*

Detalles Bibliográficos
Autores principales:	HARJAMA, Liisa, KETTUNEN, Kaisa, ELOMAA, Outi, EINARSDOTTIR, Elisabet, HEIKKILÄ, Hannele, KIVIRIKKO, Sirpa, LAPPALAINEN, Katriina, SAARELA, Janna, ALBY, Caroline, RANKI, Annamari, KERE, Juha, HADJ-RABIA, Smail, HANNULA-JOUPPI, Katariina
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Society for Publication of Acta Dermato-Venereologica 2020
Materias:	Short Communication
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9128877/ https://www.ncbi.nlm.nih.gov/pubmed/31944258 http://dx.doi.org/10.2340/00015555-3404

Ejemplares similares

A novel desmoplakin mutation causes dilated cardiomyopathy with palmoplantar keratoderma as an early clinical sign
por: Karvonen, V., et al.
Publicado: (2022)

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

Palmoplantar keratoderma along with neuromuscular and metabolic phenotypes in Slurp1-deficient mice
por: Adeyo, Oludotun, et al.
Publicado: (2014)

DSP c.6310delA p.(Thr2104Glnfs*12) associates with arrhythmogenic cardiomyopathy, increased trabeculation, curly hair, and palmoplantar keratoderma
por: Heliö, Krista, et al.
Publicado: (2023)

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

Novel TMEM173 Mutation and the Role of Disease Modifying Alleles
por: Keskitalo, Salla, et al.
Publicado: (2019)

Novel nonsense variants in SLURP1 and DSG1 cause palmoplantar keratoderma in Pakistani families
por: Akbar, Abida, et al.
Publicado: (2019)

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

Palmoplantar keratoderma with dental abnormalities
por: Kaliyadan, Feroze, 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)

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

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

Skin Microbiota and Clinical Associations in Netherton Syndrome
por: Sillanpää, Veera, et al.
Publicado: (2021)

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

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

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)

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)

Palmoplantar Keratoderma: A Molecular Genetic Analysis of Family Cases
por: Shchagina, Olga, et al.
Publicado: (2022)

Palmoplantar keratoderma and digital clubbing in 2 sisters with hypertrophic osteoarthropathy
por: Eriksson, Daniel, et al.
Publicado: (2022)

A case of acrodermatitis enteropathica mimicking mutilating palmoplantar keratoderma
por: Behera, Binodini, et al.
Publicado: (2022)

Palmoplantar keratoderma as the preceding cutaneous manifestation of juvenile-onset dermatomyositis
por: Patra, Pratap Kumar, et al.
Publicado: (2022)

A Case Report of Hereditary Palmoplantar Keratoderma with Esophageal Melanosis
por: Vincent Comraj, Delvina, et al.
Publicado: (2023)

Immune cell phenotype and functional defects in Netherton syndrome
por: Eränkö, Elina, et al.
Publicado: (2018)

Case report: A novel de novo IGF2 missense variant in a Finnish patient with Silver-Russell syndrome
por: Loid, Petra, et al.
Publicado: (2022)

Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma
por: Pohler, Elizabeth, et al.
Publicado: (2012)

Christ–Siemens–Touraine syndrome with palmoplantar keratoderma: A rare association
por: Kothiwala, Sunil K, et al.
Publicado: (2016)

Resolution of acquired palmoplantar keratoderma and scurvy after treatment of multivitamin deficiencies
por: Berry, Corbett T., et al.
Publicado: (2022)

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

Exuberant clinical picture of Buschke-Fischer-Brauer palmoplantar keratoderma in bedridden patient
por: Antonio, João Roberto, et al.
Publicado: (2014)

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

Resolution of pseudoainhum with acitretin therapy in a patient with palmoplantar keratoderma and congenital alopecia
por: Richey, Patricia M., et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_g8vj0598tb4lk24olflnjajpn3