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

ABSTRACT: 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.

SUBMITTER: Mullegama SV

PROVIDER: S-EPMC5458005 | biostudies-literature | 2017 Jun

REPOSITORIES: biostudies-literature

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Coupling clinical exome sequencing with functional characterization studies to diagnose a patient with familial Mediterranean fever and <i>MED13L</i> haploinsufficiency syndromes.

Mullegama Sureni V SV Jensik Phillip P Li Chen C Dorrani Naghmeh N Kantarci Sibel S Blumberg Bruce B Grody Wayne W WW Strom Samuel P SP

Clinical case reports 20170418 6

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. ...[more]

PMID: 28588821

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