Results 141 to 150 of about 6,899 (169)

Correction: Case Report: Autosomal recessive palmoplantar keratoderma with additional bilateral hearing loss due to a pathogenic frameshift deletion in FAM83G. [PDF]

Front Med (Lausanne)
Mora-Gómez M, Feito M, Gallego-Zazo N, Maseda-Pedrero R, Sobral-Costas TG, Miranda-Alcaraz L, Vásquez-Amell V, Rodríguez-Canó M, Parra A, Cazalla M, Arias P, Silván C, Jiménez-Estrada JA, Ruiz-Pérez VL, Nevado J, Lapunzina P, Tenorio-Castano J.   +16 more
europepmc   +1 more source

SERPINA12 in skin: molecular mechanisms and roles in adipocytes, psoriasis, and palmoplantar keratoderma. [PDF]

Front Immunol
Xiao Z, Wang F, Li R, Tan Y.
europepmc   +1 more source

Sporadic Diffuse Palmoplantar Keratoderma in a Pediatric Patient With Early Onset: A Case Report. [PDF]

Cureus
Premkumar L, Preethi P S, Swaminathan A, Sundaram M.   +3 more
europepmc   +1 more source

E114G de Novo Mutation in GJB2 Gene in a Chinese Patient with Classical Vohwinkel Syndrome. [PDF]

Int Med Case Rep J
Chen B, Xu X, Zhou F.
europepmc   +1 more source

De Novo Germline L858R EGFR Variants and Generalized Acanthosis Nigricans. [PDF]

JAMA Dermatol
Jiang X, Jeng MY, Yang Z, Ugwu N, Cheng Y, Echeandia-Francis C, Mortlock RD, Mani MV, Rekhtman N, Podolanczuk AJ, Fiorino E, Plodkowski A, Lekwuttikarn R, Teng J, Walsh MF, Yu HA, Lin Z, Choate KA.   +17 more
europepmc   +1 more source

Novel variants in LSS related hypotrichosis simplex 14. [PDF]

Front Genet
Hua S, Fang B, Cheng Y, Zhang X, Zhang Y, Qian Q, Zhang J.   +6 more
europepmc   +1 more source

A frameshift variation in the DSP gene causes a novel subtype of atypical epidermolytic palmoplantar keratoderma: Case report. [PDF]

Front Med (Lausanne)
Lin C, Chen H, Lai S, Huang S, Guo Z, Xie L, Zheng W, Lu J, Zeng Z, Wan C, Li L.   +10 more
europepmc   +1 more source

Pulmonary Tuberculosis and a Related Verrucous Plaque on the Sole of the Foot. [PDF]

Am J Trop Med Hyg
Meena A, Susan SS, Jinkala S, Kumar S.
europepmc   +1 more source

Further delineation of KIDAR syndrome: Two new cases with novel variants, functional analysis of the variants and a comprehensive review. [PDF]

J Hum Genet
Altıner Ş, Gökpınar İli E, Yurtdaş AK, Kurtçu O, Doğulu N, Öktem A, Köse E, Eminoğlu FT, Yıldırım BT, Aslanger AD, Yeşil Sayın G, Karabulut HG.   +11 more
europepmc   +1 more source