A protocol for whole-exome sequencing in newborns with congenital deafness: a prospective population-based cohort

INTRODUCTION: The aetiology of congenital hearing loss is heterogeneous, and in many infants a genetic cause is suspected. Parents face a diagnostic odyssey when searching for a cause of their infant’s hearing loss. Through the Melbourne Genomics Health Alliance, a prospective cohort of infants will...

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Detalles Bibliográficos
Autores principales: Downie, Lilian, Halliday, Jane L, Burt, Rachel A, Lunke, Sebastian, Lynch, Elly, Martyn, Melissa, Poulakis, Zeffie, Gaff, Clara, Sung, Valerie, Wake, Melissa, Hunter, Matthew, Saunders, Kerryn, Rose, Elizabeth, Rehm, Heidi L, Amor, David J
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2017
Materias:
Protocol
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5862171/
https://www.ncbi.nlm.nih.gov/pubmed/29637142
http://dx.doi.org/10.1136/bmjpo-2017-000119

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5862171/
https://www.ncbi.nlm.nih.gov/pubmed/29637142
http://dx.doi.org/10.1136/bmjpo-2017-000119

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