Estimating the Prevalence of De Novo Monogenic Neurodevelopmental Disorders from Large Cohort Studies

Rare diseases impact up to 400 million individuals globally. Of the thousands of known rare diseases, many are rare neurodevelopmental disorders (RNDDs) impacting children. RNDDs have proven to be difficult to assess epidemiologically for several reasons. The rarity of them makes it difficult to obs...

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Detalles Bibliográficos
Autores principales: Gillentine, Madelyn A., Wang, Tianyun, Eichler, Evan E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9687899/
https://www.ncbi.nlm.nih.gov/pubmed/36359385
http://dx.doi.org/10.3390/biomedicines10112865

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9687899/
https://www.ncbi.nlm.nih.gov/pubmed/36359385
http://dx.doi.org/10.3390/biomedicines10112865

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