Literature DB >> 1605262

Lujan syndrome in a Mexican boy.

H Rivera, M L Ramírez-Dueñas, C García-Ochoa.   

Abstract

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Year:  1992        PMID： 1605262     DOI： 10.1002/ajmg.1320430325

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


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  2 in total

1.  The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene.

Authors:  Charles E Schwartz; Patrick S Tarpey; Herbert A Lubs; Alain Verloes; Melanie M May; Hiba Risheg; Michael J Friez; P Andrew Futreal; Sarah Edkins; Jon Teague; Sylvain Briault; Cindy Skinner; Astrid Bauer-Carlin; Richard J Simensen; Sumy M Joseph; Julie R Jones; Josef Gecz; Michael R Stratton; F Lucy Raymond; Roger E Stevenson
Journal:  J Med Genet       Date:  2007-03-16       Impact factor: 6.318

Review 2.  Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus).

Authors:  Griet Van Buggenhout; Jean-Pierre Fryns
Journal:  Orphanet J Rare Dis       Date:  2006-07-10       Impact factor: 4.123
  2 in total

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