Three rare disease diagnoses in one patient through exome sequencing

Diagnostic exome sequencing yields a single genetic diagnosis in ∼30% of cases, and according to recent studies the prevalence of identifying two genetic conditions in a single individual range between 4.6% and 7%. We present a patient diagnosed with three different rare conditions, each explained b...

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Detalles Bibliográficos
Autores principales: Ferrer, Alejandro, Schultz-Rogers, Laura, Kaiwar, Charu, Kemppainen, Jennifer L., Klee, Eric W., Gavrilova, Ralitza H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2019
Materias:
Rapid Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6913146/
https://www.ncbi.nlm.nih.gov/pubmed/31427378
http://dx.doi.org/10.1101/mcs.a004390

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6913146/
https://www.ncbi.nlm.nih.gov/pubmed/31427378
http://dx.doi.org/10.1101/mcs.a004390

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