Results 171 to 180 of about 19,066 (210)

Ectodermal Dysplasia: A Case Report. [PDF]

Cureus, 2022
Alshegifi HA, Alamoudi AM, Alrougi A, Alshaikh H, Alamri A, Shawli AM.   +5 more
europepmc   +1 more source

Ectodermal dysplasia: case report of aesthetic and functional rehabilitation

, 2017
Nattália Di Lanaro, Khawana Faker, Viviane Andrade Cancio de Paula, Mônica Almeida Tostes   +3 more
openalex   +1 more source

Lichen Planopilaris with Pili Torti and Ectodermal Dysplasia: A Hair Curling Case Report. [PDF]

Case Rep Dermatol
Langley C, Plakotaris E, Rogers NE.
europepmc   +1 more source

Ocular Manifestations of Ectrodactyly-Ectodermal Dysplasia-Cleft Palate (EEC) Syndrome: A Case Report. [PDF]

Cureus, 2023
Mohd Jais MF, Wan Dien T, Ang WJ, Raja Omar RN, Mohamad NF.   +4 more
europepmc   +1 more source

Mutations in PVRL4, Encoding Cell Adhesion Molecule Nectin-4, Cause Ectodermal Dysplasia-Syndactyly Syndrome [PDF]

, 2010
Francesco Brancati, Paola Fortugno, Irene Bottillo, Marc Lopez, Emmanuelle Josselin, O Boudghène-Stambouli, Emanuele Agolini, Laura Bernardini, Emanuele Bellacchio, Miriam Iannicelli, Alfredo Rossi, A. Dib-Lachachi, Liborio Stuppia, Giandomenico Palka, Stefan Mundlos, Sigmar Stricker, Uwe Kornak, Giovanna Zambruno, Bruno Dallapiccola   +18 more
openalex   +1 more source

Structural insights into pathogenic mechanism of hypohidrotic ectodermal dysplasia caused by ectodysplasin A variants. [PDF]

Nat Commun, 2023
Yu K, Huang C, Wan F, Jiang C, Chen J, Li X, Wang F, Wu J, Lei M, Wu Y.   +9 more
europepmc   +1 more source

A Point Mutation in NEMO Associated with Anhidrotic Ectodermal Dysplasia with Immunodeficiency Pathology Results in Destabilization of the Oligomer and Reduces Lipopolysaccharide- and Tumor Necrosis Factor-mediated NF-κB Activation [PDF]

, 2005
Emilie Vinolo, Hélène Sebban, Alain Chaffotte, Alain Israël, Gilles Courtois, Michel Véron, Fabrice Agou   +6 more
openalex   +1 more source

Attitudes of female carriers of X-linked hypohidrotic ectodermal dysplasia towards prenatal treatment and their decisions during a pregnancy with a male fetus. [PDF]

Orphanet J Rare Dis
Schneider H, Schneider M, Lia M, Grange DK, Hadj-Rabia S, Clarke A, Fete M, Jaulent A, Guiraud M, Odibo A, Faschingbauer F.   +10 more
europepmc   +1 more source

EDA Missense Variant in a Cat with X-Linked Hypohidrotic Ectodermal Dysplasia. [PDF]

Genes (Basel)
Rietmann SJ, Cochet-Faivre N, Dropsy H, Jagannathan V, Chevallier L, Leeb T.   +5 more
europepmc   +1 more source

A regulatory feedback loop involving p63 and IRF6 links the pathogenesis of 2 genetically different human ectodermal dysplasias [PDF]

, 2010
Francesca Moretti, Barbara Marinari, Nadia Lo Iacono, Elisabetta Botti, Alessandro Giunta, Giulia Spallone, Giulia Garaffo, Emma Vernersson-Lindahl, Giorgio R. Merlo, Alea A. Mills, Costanza Ballarò, Stefano Alemà, Sergio Chimenti, Luisa Guerrini, Antonio Costanzo   +14 more
openalex   +1 more source