Lathosterolosis, a Novel Multiple-Malformation/Mental Retardation Syndrome Due to Deficiency of 3β-Hydroxysteroid-Δ5-Desaturase

✍ Scribed by Nicola Brunetti-Pierri; Gaetano Corso; Massimiliano Rossi; Paola Ferrari; Fiorella Balli; Francesco Rivasi; Ida Annunziata; Andrea Ballabio; Antonio Dello Russo; Generoso Andria; Giancarlo Parenti

• Book ID: 117854002
• Publisher: American Society of Human Genetics
• Year: 2002
• Tongue: English
• Weight: 575 KB
• Volume: 71
• Category: Article
• ISSN: 0002-9297
• DOI: 10.1086/342668