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Mutations in the Human Sterol Δ7-Reductase Gene at 11q12-13 Cause Smith-Lemli-Opitz Syndrome

✍ Scribed by Christopher A. Wassif; Cheryl Maslen; Stivelia Kachilele-Linjewile; Don Lin; Leesa M. Linck; William E. Connor; Robert D. Steiner; Forbes D. Porter

Book ID: 117852482
Publisher: American Society of Human Genetics
Year: 1998
Tongue: English
Weight: 224 KB
Volume: 63
Category: Article
ISSN: 0002-9297
DOI: 10.1086/301936

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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