Carrier frequency and incidence estimation of Smith–Lemli–Opitz syndrome in East Asian populations by Genome Aggregation Database (gnomAD) based analysis

Carrier frequency and incidence estimation of Smith–Lemli–Opitz syndrome in East Asian populations by Genome Aggregation Database (gnomAD) based analysis

Abstract Background 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. S...

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Bibliographic Details
Main Authors: Jong Eun Park, Taeheon Lee, Kyeongsu Ha, Chang-Seok Ki
Format: Article
Language:English
Published: BMC 2021-04-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Smith–Lemli–Opitz syndrome
DHCR7
gnomAD
Carrier frequency
East asian
Online Access:https://doi.org/10.1186/s13023-021-01789-2

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