Literature DB >> 12833423

Fetus with renal agenesis and Smith-Lemli-Opitz syndrome.

Małgorzata J M Nowaczyk, Barry Eng, John S Waye, Sandra A Farrell, Wilma L Sirkin.   

Abstract

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Year:  2003        PMID： 12833423     DOI： 10.1002/ajmg.a.20004

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  1 in total

1.  The p.Phe174Ser mutation is associated with mild forms of Smith Lemli Opitz Syndrome.

Authors:  Arianna Tucci; Luisa Ronzoni; Carlo Arduino; Paola Salmin; Susanna Esposito; Donatella Milani
Journal:  BMC Med Genet       Date:  2016-03-11       Impact factor: 2.103
  1 in total

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