Carrier frequency and incidence estimation of Smith –Lemli–Opitz syndrome in East Asian populations by Genome Aggregation Database (gnomAD) based analysis
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 fa...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Jong Eun Park, Taeheon Lee, Kyeongsu Ha and Chang-Seok Ki Tags: Research Source Type: research