Literature DB >> 11038450

Behold the CHILD, it's only one: CHILD syndrome is not caused by deficiency of 3 beta-hydroxysteroid-Delta 8, Delta 7-isomerase.

R Happle, A König, K H Grzeschik.   

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Year:  2000        PMID： 11038450     DOI： 10.1002/1096-8628(20001002)94:4<341::aid-ajmg14>3.0.co;2-n

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


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  3 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.  Ortho-surgical management of a Conradi-Hünermann syndrome patient: rare case report.

Authors:  Leopoldino Capelozza Filho; Mauricio de Almeida Cardoso; Eduardo José Caldeira; Anderson Capistrano; Aldir da Silva Cordeiro; Diógenes Rocha
Journal:  Clin Case Rep       Date:  2015-06-29
  3 in total

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