Coupling clinical exome sequencing with functional characterization studies to diagnose a patient with familial Mediterranean fever and MED13L haploinsufficiency syndromes

Clinicians should consider that clinical exome sequencing provides the unique potential to disentangle complex phenotypes into multiple genetic etiologies. Further, functional studies on variants of uncertain significance are necessary to arrive at an accurate diagnosis for the patient.

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Detalles Bibliográficos
Publicado en:Clin Case Rep
Autores principales: Mullegama, Sureni V., Jensik, Phillip, Li, Chen, Dorrani, Naghmeh, Kantarci, Sibel, Blumberg, Bruce, Grody, Wayne W., Strom, Samuel P.
Formato: Artigo
Lenguaje:Inglês
Publicado: John Wiley and Sons Inc. 2017
Materias:
Case Reports
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC5458005/
https://ncbi.nlm.nih.gov/pubmed/28588821
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.904
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