Literature DB >> 14632217

Novel mutations in X-linked dominant chondrodysplasia punctata (CDPX2).

Neil V Whittock, Louise Izatt, Anuska Mann, Tessa Homfray, Christopher Bennett, Sahar Mansour, Jane Hurst, Alan Fryer, Anand K Saggar, Julian G Barwell, Sian Ellard, Peter T Clayton.   

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Year:  2003        PMID： 14632217     DOI： 10.1046/j.1523-1747.2003.12489.x

Source DB:  PubMed          Journal:  J Invest Dermatol        ISSN： 0022-202X            Impact factor:   8.551


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  6 in total

Review 1.  Malformation syndromes caused by disorders of cholesterol synthesis.

Authors:  Forbes D Porter; Gail E Herman
Journal:  J Lipid Res       Date:  2010-10-07       Impact factor: 5.922

Review 2.  Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis.

Authors:  Massimiliano Rossi; Christine M Hall; Raymonde Bouvier; Sophie Collardeau-Frachon; Frédérique Le Breton; Martine Bucourt; Marie Pierre Cordier; Christine Vianey-Saban; Giancarlo Parenti; Generoso Andria; Martine Le Merrer; Patrick Edery; Amaka C Offiah
Journal:  Pediatr Radiol       Date:  2015-02-03

3.  Adult presentation of X-linked Conradi-Hünermann-Happle syndrome.

Authors:  Jennifer E Posey; Lindsay C Burrage; Philippe M Campeau; James T Lu; Tanya N Eble; Lisa Kratz; Alan E Schlesinger; Richard A Gibbs; Brendan H Lee; Sandesh C S Nagamani
Journal:  Am J Med Genet A       Date:  2015-04-02       Impact factor: 2.802

4.  Cholesterol metabolism is required for intracellular hedgehog signal transduction in vivo.

Authors:  Rolf W Stottmann; Annick Turbe-Doan; Pamela Tran; Lisa E Kratz; Jennifer L Moran; Richard I Kelley; David R Beier
Journal:  PLoS Genet       Date:  2011-09-01       Impact factor: 5.917

5.  TM6SF2 and MAC30, new enzyme homologs in sterol metabolism and common metabolic disease.

Authors:  Luis Sanchez-Pulido; Chris P Ponting
Journal:  Front Genet       Date:  2014-12-11       Impact factor: 4.599

6.  X-linked dominant chondrodysplasia punctata with severe phenotype in a female fetus: A case report.

Authors:  Yan Liu; Li Wang; Bin Xu; Yike Yang; Dan Shan; Qingqing Wu
Journal:  Medicine (Baltimore)       Date:  2019-01       Impact factor: 1.889
  6 in total

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