The p.Phe174Ser mutation is associated with mild forms of Smith Lemli Opitz Syndrome
Crossref DOI link: https://doi.org/10.1186/s12881-016-0287-1
Published Online: 2016-03-11
Published Print: 2016-12
Update policy: https://doi.org/10.1007/springer_crossmark_policy
Tucci, Arianna
Ronzoni, Luisa
Arduino, Carlo
Salmin, Paola
Esposito, Susanna
Milani, Donatella