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Fragile X syndrome carrier screening accompanied by genetic consultation has clinical utility in populations beyond those recommended by guidelines

BACKGROUND: Fragile X syndrome (FXS) is the most common inherited form of intellectual disability. Many providers offer preconception or prenatal FXS carrier screening. However, guidelines recommend screening only for those with a family history or undergoing fertility evaluation. Wider screening ha...

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Detalles Bibliográficos
Autores principales: Johansen Taber, Katherine, Lim‐Harashima, Jeraldine, Naemi, Harris, Goldberg, Jim
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6900367/
https://www.ncbi.nlm.nih.gov/pubmed/31694075
http://dx.doi.org/10.1002/mgg3.1024