Co-occurrence of familial Mediterranean fever (FMF) heterozygote mutation and nail-patella syndrome (NPS) in 3 members of a family with LMX1B mutation analysis.
Balci
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Engiz
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D000293:Adolescent; D000368:Aged; D002869:Chromosome Aberrations; D003598:Cytoskeletal Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis; D010505:Familial Mediterranean Fever / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D005808:Genes, Recessive; D006580:Genetic Carrier Screening; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D060850:LIM-Homeodomain Proteins; D008297:Male; D008875:Middle Aged; D009261:Nail-Patella Syndrome / Q000175:diagnosis / Q000235:genetics*; D000071198:Pyrin; D013628:Talus / Q000002:abnormalities; D014157:Transcription Factors / Q000235:genetics*
D003598:Cytoskeletal Proteins; D018398:Homeodomain Proteins; C112149:LIM homeobox transcription factor 1 beta; D060850:LIM-Homeodomain Proteins; C000604192:MEFV protein, human; D000071198:Pyrin; D014157:Transcription Factors