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

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. SLOS is c...

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Detalles Bibliográficos
Autores principales: Park, Jong Eun, Lee, Taeheon, Ha, Kyeongsu, Ki, Chang-Seok
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8033735/
https://www.ncbi.nlm.nih.gov/pubmed/33836803
http://dx.doi.org/10.1186/s13023-021-01789-2

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