Page last updated: 2024-08-26

zymostenol and Chondrodysplasia Punctata

zymostenol has been researched along with Chondrodysplasia Punctata in 2 studies

Research

Studies (2)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's1 (50.00)29.6817
2010's1 (50.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Artigas, M; Cañueto, J; Ciria, S; Fernández-Burriel, M; García, JL; García-Dorado, J; García-Patos, V; Garcia-Silva, MT; Girós, M; González-Sarmiento, R; Hernández-Martín, A; Martín-Hernández, E; Martínez, F; Pi-Castán, G; Rosell, J; Sánchez-Tapia, EM; Tejedor, M; Torrelo, A; Unamuno, P; Valero, J; Vendrell, T; Virós, A1
Bröcker, EB; Grzeschik, KH; Haas, D; Hamm, H; Kolb-Mäurer, A1

Reviews

1 review(s) available for zymostenol and Chondrodysplasia Punctata

ArticleYear
Clinical, molecular and biochemical characterization of nine Spanish families with Conradi-Hünermann-Happle syndrome: new insights into X-linked dominant chondrodysplasia punctata with a comprehensive review of the literature.
    The British journal of dermatology, 2012, Volume: 166, Issue:4

    Topics: Adult; Cholestadienols; Cholesterol; Chondrodysplasia Punctata; DNA Mutational Analysis; Female; Genetic Diseases, X-Linked; Genotype; Humans; Infant; Mutation; Phenotype; Spain; Steroid Isomerases; X Chromosome Inactivation

2012

Other Studies

1 other study(ies) available for zymostenol and Chondrodysplasia Punctata

ArticleYear
Conradi-Hünermann-Happle syndrome (X-linked dominant chondrodysplasia punctata) confirmed by plasma sterol and mutation analysis.
    Acta dermato-venereologica, 2008, Volume: 88, Issue:1

    Topics: Alopecia; Cataract; Child, Preschool; Cholestadienols; Cholesterol; Chondrodysplasia Punctata; Craniofacial Abnormalities; DNA Mutational Analysis; Eye; Female; Genes, Dominant; Humans; Hypopigmentation; Mutation, Missense; Skin; Steroid Isomerases

2008