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-Reference-Cited by-同舟云学术

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

Published:2012-03-02 Issue:4 Volume:166 Page:830-838
ISSN:0007-0963
Container-title:British Journal of Dermatology
language:en
Short-container-title:

Author:

Cañueto J.,Girós M.,Ciria S.,Pi-Castán G.,Artigas M.,García-Dorado J.,García-Patos V.,Virós A.,Vendrell T.,Torrelo A.,Hernández-Martín Á.,Martín-Hernández E.,Garcia-Silva M.T.,Fernández-Burriel M.,Rosell J.,Tejedor M.,Martínez F.,Valero J.,García J.L.,Sánchez-Tapia E.M.,Unamuno P.,González-Sarmiento R.

Publisher

Wiley

Subject

Dermatology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-2133.2011.10756.x/fullpdf

Reference22 articles.

1. Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Soreze 2009;Oji;J Am Acad Dermatol,2010

2. X-linked dominant chondrodysplasia punctata. Review of literature and report of a case;Happle;Hum Genet,1979

3. X-Linked dominant disorders of cholesterol biosynthesis in man and mouse;Herman;Biochim Biophys Acta,2000

4. Sectorial cataract: a possible example of lyonisation;Happle;Lancet,1983

5. X-linked dominant chondrodysplasia punctata (CDPX2) caused by single gene mosaicism in a male;Aughton;Am J Med Genet A,2003

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