Are We Ready for Fragile X Newborn Screening Testing?—Lessons Learnt from a Feasibility Study

Fragile X syndrome (FXS) is the most prevalent heritable cause of cognitive impairment but is not yet included in a newborn screening (NBS) program within Australia. This paper aims to assess the feasibility and reliability of population screening for FXS using a pilot study in one hospital. A total...

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Detalles Bibliográficos
Autores principales: Wotton, Tiffany, Wiley, Veronica, Bennetts, Bruce, Christie, Louise, Wilcken, Bridget, Jenkins, Gemma, Rogers, Carolyn, Boyle, Jackie, Field, Michael
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7548904/
https://www.ncbi.nlm.nih.gov/pubmed/33072935
http://dx.doi.org/10.3390/ijns4010009

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