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: Tags: Research Source Type: research