Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1

European Journal of Human Genetics

Volumn 22, Issue 7, 2014, Pages 907-915

  Prokudin, Ivan ^a,b   Simons, Cas ^c   Grigg, John R ^a,d   Storen, Rebecca ^a,b,d   Kumar, Vikrant ^e   Phua, Zai Y ^e   Smith, James ^a   Flaherty, Maree ^a   Davila, Sonia ^e   Jamieson, Robyn V ^a,b,d,f  

^a CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^b CHILDREN'S MEDICAL RESEARCH INSTITUTE   (Australia)

^c UNIVERSITY OF QUEENSLAND   (Australia)

^d UNIVERSITY OF SYDNEY   (Australia)

^e GENOME INSTITUTE OF SINGAPORE   (Singapore)

^f UNIVERSITY OF SYDNEY   (Australia)

Author keywords

Cataract microcornea; Coloboma; Exome sequencing; Microphthalmia; Peters anomaly

Indexed keywords

CRYGC PROTEIN; CYTOCHROME P450 1B1; GJA8 PROTEIN; STRUCTURAL PROTEIN; TRANSCRIPTION FACTOR PAX6; UNCLASSIFIED DRUG; ABC TRANSPORTER; ABCB6 PROTEIN, HUMAN; CONNEXIN 50; CRYGC PROTEIN, HUMAN; CYP1B1 PROTEIN, HUMAN; EYE PROTEIN; GAMMA CRYSTALLIN; GAP JUNCTION PROTEIN; GDF3 PROTEIN, HUMAN; GROWTH DIFFERENTIATION FACTOR 3; HOMEODOMAIN PROTEIN; PAIRED BOX TRANSCRIPTION FACTOR; REPRESSOR PROTEIN;

ANOPHTHALMIA; ARTICLE; CATARACT; CLINICAL ARTICLE; COLOBOMA; DEVELOPMENTAL DISORDER; EXOME; EXOME SEQUENCING; EYE DISEASE; FEMALE; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC HETEROGENEITY; GENETIC VARIABILITY; HUMAN; MALE; MICROCORNEA; MICROPHTHALMIA; NUCLEOTIDE SEQUENCE; PENETRANCE; PETERS ANOMALY; PRIORITY JOURNAL; SEGREGATION ANALYSIS; SEQUENCE ANALYSIS; CLINICAL TRIAL; GENETICS; MUTATION; PEDIGREE;

ATP-BINDING CASSETTE TRANSPORTERS; CONNEXINS; CYTOCHROME P-450 CYP1B1; DNA MUTATIONAL ANALYSIS; EXOME; EYE DISEASES, HEREDITARY; EYE PROTEINS; FEMALE; GAMMA-CRYSTALLINS; GROWTH DIFFERENTIATION FACTOR 3; HOMEODOMAIN PROTEINS; HUMANS; MALE; MUTATION; PAIRED BOX TRANSCRIPTION FACTORS; PEDIGREE; PENETRANCE; REPRESSOR PROTEINS;

EID: 84902340799     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2013.268     Document Type: Article

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