Coupling Clinical Exome Sequencing With Functional Characterization Studies To Diagnose A Patient With Familial Mediterranean Fever And Med13l Haploinsufficiency Syndromes
CLINICAL CASE REPORTS(2017)
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.
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Key words
Clinical exome sequencing, DEAF1, familial Mediterranean fever, MED13L, MED13L haploinsufficiency syndrome, MEFV
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