Cargando…

Recessive Mutation in FAM83G Associated with Palmoplantar Keratoderma and Exuberant Scalp Hair

Detalles Bibliográficos
Autores principales:	Maruthappu, Thiviyani, McGinty, Lisa A., Blaydon, Diana C., Fell, Benjamin, Määttä, Arto, Duit, Rebecca, Hawkins, Tim, Braun, Kristin M., Simpson, Michael A., O’Toole, Edel A., Kelsell, David P.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2018
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5869049/ https://www.ncbi.nlm.nih.gov/pubmed/29138053 http://dx.doi.org/10.1016/j.jid.2017.10.031

Ejemplares similares

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

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

Pathogenic FAM83G palmoplantar keratoderma mutations inhibit the PAWS1:CK1α association and attenuate Wnt signalling.
por: Wu, Kevin Z.L., et al.
Publicado: (2020)

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)

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)

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

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)

Exuberant scale crust of the scalp
por: Kao, Jason, et al.
Publicado: (2018)

Discovery in Genetic Skin Disease: The Impact of High Throughput Genetic Technologies
por: Maruthappu, Thiviyani, et al.
Publicado: (2014)

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)

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

iRHOM2: A Regulator of Palmoplantar Biology, Inflammation, and Viral Susceptibility
por: Chao-Chu, Jennifer, et al.
Publicado: (2020)

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)

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

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)

Tylosis with oesophageal cancer: Diagnosis, management and molecular mechanisms
por: Ellis, Anthony, et al.
Publicado: (2015)

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)

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)

Rhomboid family member 2 regulates cytoskeletal stress-associated Keratin 16
por: Maruthappu, Thiviyani, et al.
Publicado: (2017)

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

Palmoplantar keratoderma along with neuromuscular and metabolic phenotypes in Slurp1-deficient mice
por: Adeyo, Oludotun, 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)

Cannot write session to /tmp/vufind_sessions/sess_vkrha9frqlrfkcrr5rl02fieps