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Case for genome sequencing in infants and children with rare, undiagnosed or genetic diseases

Up to 350 million people worldwide suffer from a rare disease, and while the individual diseases are rare, in aggregate they represent a substantial challenge to global health systems. The majority of rare disorders are genetic in origin, with children under the age of five disproportionately affect...

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Detalles Bibliográficos
Autores principales: Bick, David, Jones, Marilyn, Taylor, Stacie L, Taft, Ryan J, Belmont, John
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6929710/
https://www.ncbi.nlm.nih.gov/pubmed/31023718
http://dx.doi.org/10.1136/jmedgenet-2019-106111