Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability

BMC Medical Genetics

Volumn 16, Issue 1, 2015, Pages

  Antoniadi, Thalia ^a   Buxton, Chris ^a   Dennis, Gemma ^a   Forrester, Natalie ^a   Smith, Debbie ^a   Lunt, Peter ^b   Burton Jones, Sarah ^a  

^a SOUTHMEAD HOSPITAL   (United Kingdom)

^b UNIVERSITY OF BRISTOL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

EARLY GROWTH RESPONSE FACTOR 2; HEAT SHOCK PROTEIN 22; HEAT SHOCK PROTEIN 27; MENKES PROTEIN; MITOFUSIN 2; PERIPHERAL MYELIN PROTEIN 22; PROTEIN KINASE WNK1; SODIUM CHANNEL NAV1.7; TRANSCRIPTION FACTOR SOX10; VANILLOID RECEPTOR 4;

AARS GENE; ADOLESCENT; ADULT; AGED; ARHGEF10 GENE; ARTICLE; ATL1 GENE; ATP7A GENE; BAG3 GENE; BSCL2 GENE; CCT5 GENE; CHILD; CONTROLLED STUDY; CTDP1 GENE; DCTN1 GENE; DIAGNOSTIC ACCURACY; DIAGNOSTIC TEST ACCURACY STUDY; DIAGNOSTIC VALUE; DNM2 GENE; DYNC1H1 GENE; EGR2 GENE; FAM134B GENE; FGD4 GENE; FIG4 GENE; GAN GENE; GARS GENE; GDAP1 GENE; GENE; GENETIC ASSOCIATION; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; GJB1 GENE; HOXD10 GENE; HSPB1 GENE; HSPB3 GENE; HSPB8 GENE; HUMAN; IGHMBP2 GENE; IKBKAP GENE; INHERITED PERIPHERAL NEUROPATHY; KARS GENE; KIF1B GENE; LITAF GENE; LMNA GENE; LRSAM1 GENE; MAJOR CLINICAL STUDY; MED25 GENE; MFN2 GENE; MPZ GENE; MTMR2 GENE; NDRG1 GENE; NEFL GENE; NEXT GENERATION SEQUENCING; NGFB GENE; NTRK1 GENE; PERIPHERAL NEUROPATHY; PLEKHG5 GENE; PMP22 GENE; PREDICTION; PRPS1 GENE; PRX GENE; RAB7A GENE; RECURRENCE RISK; REEP1 GENE; SBF2 GENE; SCN9A GENE; SEPT9 GENE; SH3TC2 GENE; SLC12A6 GENE; SOX10 GENE; SPTLC1 GENE; SPTLC2 GENE; TDP1 GENE; TRPV4 GENE; WNK1 GENE; YARS GENE; DNA SEQUENCE; ECONOMICS; GENETIC PREDISPOSITION; GENETICS; HIGH THROUGHPUT SEQUENCING; PATHOLOGY; PEDIGREE; PERIPHERAL NERVOUS SYSTEM DISEASES; PHENOTYPE; PROCEDURES; REPRODUCIBILITY;

GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; GENETIC VARIATION; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; PEDIGREE; PERIPHERAL NERVOUS SYSTEM DISEASES; PHENOTYPE; REPRODUCIBILITY OF RESULTS; SEQUENCE ANALYSIS, DNA;

EID: 84942058383     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/s12881-015-0224-8     Document Type: Article

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