Article

Carrier Frequency and Incidence Estimation of Smith–Lemli–Opitz syndrome in East Asian Populations by Genome Aggregation Database (gnomAD) Based Analysis

2021-01-19

Abstract excerpt

<title>Abstract</title> <p><bold>Background:</bold> Smith–Lemli–Opitz syndrome (SLOS) is an autosomal, recessively inherited congenital malformation syndrome characterized by multiple congenital anomalies such as microcephaly with mental defects, distinctive facial features, genital abnormalities, and 2-3 syndactyly of the toes. SLOS is caused by defective 7-dehydrocholesterol reductase, which is encoded by the <...

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Literature Corpus work: 1cb87100-31a0-5bd6-9280-9b0996f0d3f4
DOI: 10.21203/rs.3.rs-149384/v1

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