Repositorio Dspace

Listar por tema "Ectodermal Dysplasia/genetics"

Listar por tema "Ectodermal Dysplasia/genetics"

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  • EDA, EDAR, EDARADD and WNT10A allelic variants in patients with ectodermal derivative impairment in the Spanish population 
    Carmen-Martínez-Romero, María; Ballesta-Martínez, María-Juliana; López-González, Vanesa; Sánchez-Soler, María-José; Serrano-Anton, Ana-Teresa; Barreda-Sánchez, María; Rodríguez-Pena, Lidya; Martínez-Menchon, María-Teresa; Frias-Iniesta, José; Sánchez-Pedreño, Paloma; Carbonell-Meseguer, Pablo; Glover-López, Guillermo; Guillén-Navarro, Encarna; Barcia-Ramírez, Ana; Cruz-Rojo, Jaime; Gener-Querol, Blanca; Hernández-Martin, Ángela; Lapunzina-Badia, Pablo; Llanos-Rivas, Isabel; Lorda-Sánchez, Isabel; Martínez-Carrascal, Antonio; Mascaro-Galy, José-Manuel; Noguera-Morel, Lucero; Rodríguez-González, María-Ángeles; Sánchez-del-Pozo, Jaime; Seidel, Veronica; Torrelo, Antonio; Trujillo-Tiebas, María-José (BMC, 2019-12-03)
    BACKGROUND: Ectodermal dysplasias (ED) are a group of genetic conditions affecting the development and/or homeostasis of two or more ectodermal derivatives. An attenuated phenotype is considered a non-syndromic trait when ...
  • Protocol for the Phase 2 EDELIFE Trial Investigating the Efficacy and Safety of Intra-Amniotic ER004 Administration to Male Subjects with X-Linked Hypohidrotic Ectodermal Dysplasia 
    Schneider, Holm; Hadj-Rabia, Smail; Faschingbauer, Florian; Bodemer, Christine; Grange, Dorothy-K; Norton, Mary-E; Cavalli, Riccardo; Tadini, Gianluca; Stepan, Holger; Clarke, Angus; Guillén-Navarro, Encarna; Maier-Wohlfart, Sigrun; Bouroubi, Athmane; Porte, Florence (MDPI, 2023-01)
    X-linked hypohidrotic ectodermal dysplasia (XLHED) is a rare genetic disorder characte-rised by abnormal development of the skin and its appendages, such as hair and sweat glands, the teeth, and mucous glands of the airways, ...