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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Bibliografiske detaljer
Udgivet i:Orphanet J Rare Dis
Main Authors: Park, Jong Eun, Lee, Taeheon, Ha, Kyeongsu, Ki, Chang-Seok
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2021
Fag:
Research
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC8033735/
https://ncbi.nlm.nih.gov/pubmed/33836803
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-021-01789-2
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