Guidelines for the genetic diagnosis of hereditary recurrent fevers

Guidelines for the genetic diagnosis of hereditary recurrent fevers

Source :

• Annals of the Rheumatic Diseases [ 0003-4967 ] ; 2012-10.

English descriptors

• KwdEn :
  • Allele, Arthritis rheum, Best practice guidelines, Carrier status, Causative genes, Centre, Clinical diagnosis, Clinical judgement, Clinical reference centres, Clinician, Complex allele, Compound heterozygosity, Compound heterozygote, Contact information, Diagnosis, Diagnostic laboratory, Diagnostic score, Dominant diseases, Exon, Expert clinician, External quality assessment, Familial, Familial mediterranean fever, Fever syndromes, Gene, Gene variants, General population, Genet, Genetic, Genetic counselling, Genetic diagnosis, Genetic result, Genetic results, Genetic testing, Genetics, Genetics quality network, Geneva university hospitals, Genotype, Guideline, Hereditary, Hereditary syndromes, Hgvs nomenclature, Hrfs, Human genetics, Human genome variation society, Innate immunity, Judgement, Medical genetics, Medical research, Mefv, Mefv gene, Mild phenotype, Molecular analysis, Molecular geneticists, Molecular genetics, Mutation, Normal letters, Other hrfs, Parental testing, Pathogenic, Pathogenic sequence variants, Pathogenic variant, Pathogenic variants, Periodic fever, Periodic syndrome, Phenotype, Possible association, Prenatal diagnosis, Presymptomatic diagnosis, Rare diseases, Rare variants, Recurrent bouts, Reference sequence, Relevant literature, Rheum, Sequence variant, Sequence variants, Syndrome, Tnfrsf1a, Tumour necrosis factor, Undetected variants, Variant, Various genes.
• Teeft :
  • Allele, Arthritis rheum, Best practice guidelines, Carrier status, Causative genes, Centre, Clinical diagnosis, Clinical judgement, Clinical reference centres, Clinician, Complex allele, Compound heterozygosity, Compound heterozygote, Contact information, Diagnosis, Diagnostic laboratory, Diagnostic score, Dominant diseases, Exon, Expert clinician, External quality assessment, Familial, Familial mediterranean fever, Fever syndromes, Gene, Gene variants, General population, Genet, Genetic, Genetic counselling, Genetic diagnosis, Genetic result, Genetic results, Genetic testing, Genetics, Genetics quality network, Geneva university hospitals, Genotype, Guideline, Hereditary, Hereditary syndromes, Hgvs nomenclature, Hrfs, Human genetics, Human genome variation society, Innate immunity, Judgement, Medical genetics, Medical research, Mefv, Mefv gene, Mild phenotype, Molecular analysis, Molecular geneticists, Molecular genetics, Mutation, Normal letters, Other hrfs, Parental testing, Pathogenic, Pathogenic sequence variants, Pathogenic variant, Pathogenic variants, Periodic fever, Periodic syndrome, Phenotype, Possible association, Prenatal diagnosis, Presymptomatic diagnosis, Rare diseases, Rare variants, Recurrent bouts, Reference sequence, Relevant literature, Rheum, Sequence variant, Sequence variants, Syndrome, Tnfrsf1a, Tumour necrosis factor, Undetected variants, Variant, Various genes.

Abstract

• https://api.istex.fr/document/30D0A70C981BD2F8DD91F171E018CC5069790381/fulltext/pdf

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