Results 101 to 110 of about 2,720 (173)

A Case of SREBF1-Associated Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome With Recurrent Alopecia. [PDF]

J Dermatol
Park JY, Lee HJ, Huh CH.
europepmc   +1 more source

Alterations in Gut Microbiome Diversity and Composition in Patients with Epidermolysis Bullosa: A Case-Control Study. [PDF]

Indian J Dermatol
Widhiati S, Soebono H, Purnomosari D, Wibawa T.   +3 more
europepmc   +1 more source

Atrichia with papular lesions in Syrian siblings exposing global diagnostic challenges in genetic alopecia: A rare case report. [PDF]

J Int Med Res
Alibrahim NH, Qatza A, Dukhan A, Almoustafa M, Douri T.   +4 more
europepmc   +1 more source

Recurrent MBTPS2 variant c.970+5G>A in IFAP syndrome: a mutational hotspot. [PDF]

Hum Genome Var
Kumar S, Ahmed S, Incardona P, Cesarato N, Zhang Y, Natale MI, Khan MJ, Valinotto L, Ullah K, Ahmad W, Irurzun I, Krawitz PM, Liang B, Betz RC.   +13 more
europepmc   +1 more source

One Clinical Picture, Two Clinical Entities: A Case Report and Literature Review of Neurofibromatosis and Hemochromatosis. [PDF]

Children (Basel)
Melit LE, Borka Balas R, Tripon F, Prisca RA, Toth T, Stangaciu A, Najjar K.   +6 more
europepmc   +1 more source

The Role of RCM and LC-OCT in Genodermatoses Associated with Skin Cancer: A Narrative Review. [PDF]

Acta Derm Venereol
Piscazzi F, Carrera C, Riera-Monroig J, Puig S, Malvehy J, Anker J, Ardigò M.   +6 more
europepmc   +1 more source

Case Report: A case of Rothmund-Thomson syndrome-like phenotype with an <i>ANAPC1</i> variant of uncertain significance and observed hair improvement. [PDF]

Front Med (Lausanne)
Huang C, Liu Q, Yang D.
europepmc   +1 more source

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

Frontiers in Medicine
Mónica Mora-Gómez, Mónica Mora-Gómez, Mónica Mora-Gómez, Marta Feito, Natalia Gallego-Zazo, Natalia Gallego-Zazo, Natalia Gallego-Zazo, Rocío Maseda-Pedrero, Tristán G. Sobral-Costas, Lucía Miranda-Alcaraz, Lucía Miranda-Alcaraz, Lucía Miranda-Alcaraz, Valeria Vásquez-Amell, Valeria Vásquez-Amell, Valeria Vásquez-Amell, Manuel Rodríguez-Canó, Manuel Rodríguez-Canó, Manuel Rodríguez-Canó, Alejandro Parra, Alejandro Parra, Alejandro Parra, Mario Cazalla, Mario Cazalla, Mario Cazalla, Pedro Arias, Pedro Arias, Pedro Arias, Cristina Silván, Cristina Silván, Cristina Silván, Juan A. Jiménez-Estrada, Juan A. Jiménez-Estrada, Juan A. Jiménez-Estrada, Víctor L. Ruiz-Pérez, Víctor L. Ruiz-Pérez, Víctor L. Ruiz-Pérez, Víctor L. Ruiz-Pérez, Julián Nevado, Julián Nevado, Julián Nevado, Pablo Lapunzina, Pablo Lapunzina, Pablo Lapunzina, Jair Tenorio-Castano, Jair Tenorio-Castano, Jair Tenorio-Castano   +45 more
doaj   +1 more source

Genodermatosis among the southwestern Saudi population: The pattern and the need for a premarital genetic screening protocol. [PDF]

Saudi Med J
Alfahaad HA.
europepmc   +1 more source