Next generation sequencing of chromosomal rearrangements in patients with split-hand/split-foot malformation provides evidence for DYNC1I1 exonic enhancers of DLX5/6 expression in humans

Journal of Medical Genetics

Volumn 51, Issue 4, 2014, Pages 264-267

  Allen, Hana Lango ^a   Caswell, Richard ^a   Xie, Weijia ^a   Xu, Xiao ^a   Wragg, Christopher ^b   Turnpenny, Peter D ^c   Turner, Claire L S ^c   Weedon, Michael N ^a   Ellard, Sian ^a  

^a UNIVERSITY OF EXETER MEDICAL SCHOOL   (United Kingdom)

^b NORTH BRISTOL NHS TRUST   (United Kingdom)

^c ROYAL DEVON AND EXETER NHS FOUNDATION TRUST   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

DYNC 1 PROTEIN; ORNITHINE DECARBOXYLASE; PROTEIN; SPACER DNA; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR DLX5; TRANSCRIPTION FACTOR DLX6; UNCLASSIFIED DRUG;

ARTICLE; CAMPTODACTYLY; CASE REPORT; CHROMOSOME 2; CHROMOSOME 7; CHROMOSOME 7Q; CHROMOSOME BREAKAGE; CHROMOSOME REARRANGEMENT; CHROMOSOME TRANSLOCATION; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; ECTRODACTYLY; ENHANCER REGION; EXOME; EXON; FEMALE; GENE LOCUS; GENE SEQUENCE; HUMAN; INTRON; KARYOTYPING; MALE; NEXT GENERATION SEQUENCING; PENETRANCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; RECESSIVE INHERITANCE; RETROGRADE NERVE FIBER TRANSPORT;

CHROMOSOMAL; CLINICAL GENETICS; COPY-NUMBER; GENETICS;

ANIMALS; CHROMOSOME ABERRATIONS; CYTOPLASMIC DYNEINS; ENHANCER ELEMENTS, GENETIC; EXONS; FAMILY; FEMALE; GENE EXPRESSION REGULATION; GENE REARRANGEMENT; GENETIC LOCI; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HOMEODOMAIN PROTEINS; HUMANS; LIMB DEFORMITIES, CONGENITAL; MALE; MICE; MUTATION; PENETRANCE; TRANSCRIPTION FACTORS;

EID: 84896544495     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2013-102142     Document Type: Article

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