Value of whole exome sequencing for syndromic retinal dystrophy diagnosis in young patients

Clinical and Experimental Ophthalmology

Volumn 43, Issue 2, 2015, Pages 132-138

  Prokudin, Ivan ^a,f   Li, Dong ^g   He, Sijie ^i,j   Guo, Yiran ^g   Goodwin, Linda ^b   Wilson, Meredith ^a   Rose, Loreto ^c   Tian, Lifeng ^g   Chen, Yulan ⁱ   Liang, Jinlong ⁱ   Keating, Brendan ^g,h   Xu, Xun ⁱ   Jamieson, Robyn V ^a,d,e,f   Hakonarson, Hakon ^g,h  

^a CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^b NEPEAN HOSPITAL   (Australia)

^c MACQUARIE UNIVERSITY HOSPITAL   (Australia)

^d UNIVERSITY OF SYDNEY   (Australia)

^e UNIVERSITY OF SYDNEY   (Australia)

^f CHILDREN'S MEDICAL RESEARCH INSTITUTE   (Australia)

^g CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^h UNIVERSITY OF PENNSYLVANIA   (United States)

ⁱ BGI SHENZHEN   (China)

^j UNIVERSITY OF CHINESE ACADEMY OF SCIENCES   (China)

more..

Author keywords

Cohen syndrome; VPS13B; Whole exome sequencing

Indexed keywords

GENOMIC DNA; VESICULAR TRANSPORT PROTEINS; VPS13B PROTEIN, HUMAN;

ARTICLE; CASE REPORT; CHILD; CLINICAL EVALUATION; CLINICAL FEATURE; CONSANGUINITY; DEVELOPMENTAL DISORDER; EARLY DIAGNOSIS; EXOME; FEMALE; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE IDENTIFICATION; GENE SEQUENCE; HUMAN; INDEL MUTATION; INTELLECTUAL IMPAIRMENT; LEBANESE; MALE; MICROCEPHALY; MYOPIA; NEUTROPENIA; NONSENSE MUTATION; OUTCOME ASSESSMENT; PERCEPTION DEAFNESS; PRESCHOOL CHILD; PROSPECTIVE STUDY; RETINA DYSTROPHY; RETINA PIGMENT DEGENERATION; SCHOOL CHILD; SEQUENCE ALIGNMENT; SYNDROMIC RETINA DYSTROPHY; VPS13B GENE; ABNORMALITIES; CHILD, PRESCHOOL; DEVELOPMENTAL DISABILITIES; FINGERS; GENETICS; HUMANS; INTELLECTUAL DISABILITY; MUSCLE HYPOTONIA; OBESITY; PEDIGREE; PROSPECTIVE STUDIES; RETINAL DYSTROPHIES; SEQUENCE ANALYSIS, DNA; SEQUENCE DELETION; SIBLINGS;

CHILD; CHILD, PRESCHOOL; CONSANGUINITY; DEVELOPMENTAL DISABILITIES; EXOME; FEMALE; FINGERS; FRAMESHIFT MUTATION; HUMANS; INTELLECTUAL DISABILITY; MALE; MICROCEPHALY; MUSCLE HYPOTONIA; MYOPIA; OBESITY; PEDIGREE; PROSPECTIVE STUDIES; RETINAL DYSTROPHIES; SEQUENCE ANALYSIS, DNA; SEQUENCE DELETION; SIBLINGS; VESICULAR TRANSPORT PROTEINS;

EID: 84925937992     PISSN: 14426404     EISSN: 14429071     Source Type: Journal    
DOI: 10.1111/ceo.12391     Document Type: Article

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