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

Bibliographic Details
Main Authors: Tucci, Arianna, Ronzoni, Luisa, Arduino, Carlo, Salmin, Paola, Esposito, Susanna, Milani, Donatella
Format: Online
Language:English
Published: BioMed Central 2016
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4788854/