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...

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Detalles Bibliográficos
Autores principales: Lazarin, Gabriel A., Haque, Imran S., Evans, Eric A., Goldberg, James D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5413855/
https://www.ncbi.nlm.nih.gov/pubmed/28166604
http://dx.doi.org/10.1002/pd.5018

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5413855/
https://www.ncbi.nlm.nih.gov/pubmed/28166604
http://dx.doi.org/10.1002/pd.5018

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