Results 161 to 170 of about 18,314 (251)

Marked hypoplasia of the distal phalanges in Ellis-Van Creveld syndrome [PDF]

, 2018
Marcelis, Stijn, Mortier, Geert, Vanhoenacker, Filip   +2 more
core   +3 more sources

Expanding the Mutational Spectrum of TSPEAR in Ectodermal Dysplasia Type 14: A Familial Case Study. [PDF]

Genes (Basel)
Sirica R, Ottaiano A, Brasi D, Marcella S, Acquaviva F, Ianniello M, Petrillo N, De Angelis V, Ruggiero R, D'Angelo R, Evangelista E, Fico A, Savarese G.   +12 more
europepmc   +1 more source

A Missense Mutation in the Collagen Triple Helix of EDA Is Associated with X-Linked Recessive Hypohidrotic Ectodermal Dysplasia in Fleckvieh Cattle. [PDF]

Genes (Basel), 2023
Reinartz S, Weiß C, Heppelmann M, Hewicker-Trautwein M, Hellige M, Willen L, Feige K, Schneider P, Distl O.   +8 more
europepmc   +1 more source

Ectrodactyly‐Ectodermal Dysplasia‐Clefting Syndrome (EEC): Report of a Case with Perioral Papillomatosis [PDF]

, 2002
Bárbara Fernandes, Evelina Ruas, Álvaro Machado, Américo Figueiredo   +3 more
openalex   +1 more source

Multidisciplinary interventions in ectodermal dysplasia: A clinical case report. [PDF]

J Family Med Prim Care
Chaponan-Lavalle A, Garcia LGA, Randich KH, Chaponan-Lavalle Y, Ordaya-Gonzales K, Arriola-Montenegro J.   +5 more
europepmc   +1 more source

Hypohidrotic ectodermal dysplasia and juxtaclavicular beaded lines. [PDF]

JAAD Case Rep, 2022
Dubois A, Fostier W, Sampson J, Durham J, Rajan N.   +4 more
europepmc   +1 more source

Ectodermal dysplasia: a narrative review of the clinical and biological aspects relevant to oral health. [PDF]

Front Pediatr
Morandini AC, Adeogun O, Black M, Holman E, Collins K, James W, Lally L, Fordyce A, Dobbs R, McDaniel E, Putnam H, Milano M.   +11 more
europepmc   +1 more source

The Ectodermal Dysplasias-Burden of Disease Score: Development and Validation of an Ectodermal Dysplasia Family/Parental Burden Score. [PDF]

Acta Derm Venereol, 2023
Dufresne H, Maincent O, Taieb C, Bodemer C, Hadj-Rabia S.   +4 more
europepmc   +1 more source

[Research progress on the diagnosis of ectodermal dysplasia and early oral prosthodontic treatment]. [PDF]

Hua Xi Kou Qiang Yi Xue Za Zhi
Lin L, Li P, Zhao W.
europepmc   +1 more source

A Recurrent Nonsense Mutation in NECTIN4 Underlying Ectodermal Dysplasia-Syndactyly Syndrome with a Novel Phenotype in a Consanguineous Kashmiri Family. [PDF]

Genet Res (Camb), 2023
Ali G, Sadia S, Ain-Ul-Batool S, Azeem Z, Awan NB, Kazmi SAR, Ur-Rehman Z, Anjum Z, Ur-Rehman F, Wali A, Khan K, Zaman N, Ayub M, Sajid M, Hassan N.   +14 more
europepmc   +1 more source