An autosomal recessive disorder of CHOLESTEROL metabolism. It is caused by a deficiency of 7-dehydrocholesterol reductase (DHCR7), the enzyme that converts 7-dehydrocholesterol to cholesterol, leading to an abnormally low plasma cholesterol. This syndrome is characterized by multiple congenital abnormalities, growth deficiency, and MENTAL RETARDATION.


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with SLO-<b>syndrome</b> and the

with SLO-syndrome and the
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Figure 1

Figure 1
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<b>Smith</b>-<b>Lemli</b>-<b>Opitz syndrome</b>

Smith-Lemli-Opitz syndrome
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<b>Smith Lemli Opitz Syndrome</b>

Smith Lemli Opitz Syndrome
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En donde las expectativas <b>de</b>

En donde las expectativas de
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Child with <b>Smith</b>-<b>Lemli</b>-<b>Opitz</b>

Child with Smith-Lemli-Opitz
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ou <b>de</b> implantação baixa,

ou de implantação baixa,
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nature.com
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Dernière mise à jour: Septembre 2014