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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...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2018
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Materias: | |
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 |