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