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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...
Enregistré dans:
| Publié dans: | Orphanet J Rare Dis |
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| Auteurs principaux: | , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
BioMed Central
2021
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| Sujets: | |
| Accès en ligne: | 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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