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Diagnostic yield of genetic testing in 324 infants with hypotonia
This retrospective cohort study was designed to determine the yield of genetic tests in hypotonic infants and develop a diagnostic algorithm. Out of 496 patients identified by International Classification of Diseases (ICD) 9/10 coding, 324 patients met the inclusion criteria. Diagnostic yields were...
Autores principales: | Sharma, Sonal, Repnikova, Elena, Noel‐MacDonnell, Janelle R., LePichon, Jean‐Baptiste |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Blackwell Publishing Ltd
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9291145/ https://www.ncbi.nlm.nih.gov/pubmed/34480364 http://dx.doi.org/10.1111/cge.14057 |
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