Literature DB >> 17347909

Sacral dimple as a skin manifestation of the Smith-Lemli-Opitz syndrome.

V Bzduch1, D Behulova, L Kozak.   

Abstract

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Year:  2007        PMID： 17347909     DOI： 10.1007/s10545-007-0564-4

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  2 in total

1.  DHCR7 nonsense mutations and characterisation of mRNA nonsense mediated decay in Smith-Lemli-Opitz syndrome.

Authors:  L S Correa-Cerro; C A Wassif; J S Waye; P A Krakowiak; D Cozma; N R Dobson; S W Levin; G Anadiotis; R D Steiner; M Krajewska-Walasek; M J M Nowaczyk; F D Porter
Journal:  J Med Genet       Date:  2005-04       Impact factor: 6.318

Review 2.  The Smith-Lemli-Opitz syndrome.

Authors:  R I Kelley; R C Hennekam
Journal:  J Med Genet       Date:  2000-05       Impact factor: 6.318
  2 in total

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