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Article

Egyptian tale from India: application of whole-exome sequencing in diagnosis of atypical familial Mediterranean fever.

International journal of rheumatic diseases - 1 Nov 2017

Sandhya Pulukool, Vellarikkal Shamsudheen Karuthedath, Nair Aswin, Ravi Rowmika, Mathew John, Jayarajan Rijith, Kumar Anoop, Verma Ankit, Sivadas Ambily, Danda Debashish, Sivasubbu Sridhar, Scaria Vinod

Abstract excerpt

Clinical diagnosis of autoinflammatory diseases requires a high degree of clinical suspicion and clinching molecular evidence to substantiate the diagnosis. This is more so in populations with low prevalence of these disorders. In this report, we describe the case of a young man from India with recurrent fever and persistent arthritis. The patient's forefathers were of Egyptian ancestry who practiced...

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Identifiers

PMID: 28211254
DOI: 10.1111/1756-185X.13042

Genes

MEFV

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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