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...

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Detalles Bibliográficos
Autores principales: Sharma, Sonal, Repnikova, Elena, Noel‐MacDonnell, Janelle R., LePichon, Jean‐Baptiste
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2021
Materias:
Short Reports
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

Internet

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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