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Novel Mutation in a Child with Goltz Syndrome

✍ Scribed by Seema Kapoor; Vidyabrata Ghosh; John A. McGrath; Atul Mohan Kochar; Harit Kapoor; Reetika Malik


Book ID
107599191
Publisher
Springer-Verlag
Year
2011
Tongue
English
Weight
145 KB
Volume
79
Category
Article
ISSN
0019-5456

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Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder characterized by minor facial anomalies, mental retardation, and multiple congenital abnormalities. Biochemically, the disorder is caused by deficient activity of 7-dehydrocholesterol reductase, which catalyzes the reduction of the