RSH (so-called Smith-Lemli-Opitz) syndrome.

Abstract:

:Now known as a Garrodian inborn error caused by the homozygous state of many different autosomal recessive mutations of the 7-dehydrocholesterol reductase gene leading to deficient conversion of 7-dehydrocholesterol to cholesterol, the RSH (so-called Smith-Lemli-Opitz) syndrome has become a paradigmatic metabolic malformation syndrome in a pathway that also involves cause and pathogenesis of desmosterolosis, two forms of the Conradi-Hünermann-Happle type chondodysplasia punctata and its mouse homologs, and the Greenberg "moth-eaten" skeletal dysplasia and the CHILD syndrome. Many other defects in this pathway remain to be discovered.

journal_name

Curr Opin Pediatr

authors

Opitz JM

doi

10.1097/00008480-199908000-00015

keywords:

subject

Has Abstract

pub_date

1999-08-01 00:00:00

pages

353-62

issue

4

eissn

1040-8703

issn

1531-698X

journal_volume

11

pub_type

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