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Two novel mutations of the human Δ7-sterol reductase (DHCR7) gene in children with Smith–Lemli–Opitz syndrome

✍ Scribed by C. Patrono; C. Dionisi-Vici; A. Giannotti; B. Bembi; M.C. Digilio; C. Rizzo; C. Purificato; C. Martini; R. Pierini; F.M. Santorelli

Book ID
115638495
Publisher
Elsevier Science
Year
2002
Tongue
English
Weight
120 KB
Volume
16
Category
Article
ISSN
0890-8508

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## Abstract The Smith‐Lemli‐Opitz syndrome (SLOS), or RSH syndrome, is a well‐characterized multiple congenital anomalies/mental retardation syndrome. The phenotype has been redefined to include mildly affected individuals with minor anomalies and developmental delay, and severe malformations with