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Smith–Lemli–Opitz syndrome carrier frequency and estimates of in utero mortality rates

OBJECTIVE: To tabulate individual allele frequencies and total carrier frequency for Smith–Lemli–Opitz syndrome (SLOS) and compare expected versus observed birth incidences. METHODS: A total of 262 399 individuals with no known indication or increased probability of SLOS carrier status, primarily US...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Prenat Diagn
Egile Nagusiak: Lazarin, Gabriel A., Haque, Imran S., Evans, Eric A., Goldberg, James D.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: John Wiley and Sons Inc. 2017
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC5413855/
https://ncbi.nlm.nih.gov/pubmed/28166604
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/pd.5018
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