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

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Bibliographic Details
Title:	The p.Phe174Ser mutation is associated with mild forms of Smith Lemli Opitz Syndrome.
Authors:	Tucci A; Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano,Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via Commenda 9, 20122, Milan, Italy., Ronzoni L; Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano,Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via Commenda 9, 20122, Milan, Italy., Arduino C; S.C.D.U. Genetica Medica, A.O. Città della Salute e della Scienza, Torino, Italy., Salmin P; S.C.D.U. Genetica Medica, A.O. Città della Salute e della Scienza, Torino, Italy., Esposito S; Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano,Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via Commenda 9, 20122, Milan, Italy., Milani D; Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano,Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via Commenda 9, 20122, Milan, Italy. donatella.milani@policlinico.mi.it.
Source:	BMC medical genetics [BMC Med Genet] 2016 Mar 11; Vol. 17, pp. 22. Date of Electronic Publication: 2016 Mar 11.
Publication Type:	Case Reports; Journal Article
Journal Info:	Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350 (Electronic) Linking ISSN: 14712350 NLM ISO Abbreviation: BMC Med Genet Subsets: MEDLINE
Database:	MEDLINE Ultimate

Description
ISSN:	1471-2350
DOI:	10.1186/s12881-016-0287-1