Ectopia lentis et pupillae in four generations caused by novel mutations in the ADAMTSL4 gene

British Journal of Ophthalmology

Volumn 97, Issue 5, 2013, Pages 583-587

  Sharifi, Yassi ^a   Tjon Fo Sang, Martha J ^b   Cruysberg, Johannes R M ^c   Maat Kievit, Anneke J ^d  

^a ACADEMIC MEDICAL CENTER   (Netherlands)

^b ROTTERDAM EYE HOSPITAL   (Netherlands)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^d ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ADAMTSL4 PROTEIN; GENOMIC DNA; METALLOPROTEINASE; UNCLASSIFIED DRUG;

ADAMTSL4 GENE; ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE INHERITANCE; CHILD; CLINICAL ARTICLE; CONSANGUINITY; ECTOPIA LENTIS; ECTOPIA LENTIS ET PUPILLAE; EYE EXAMINATION; FAMILIAL DISEASE; FEMALE; GENE; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HUMAN CELL; INHERITANCE; MALE; MOLECULAR GENETICS; MOLECULAR PATHOLOGY; NETHERLANDS; NONSENSE MUTATION; OUTCOME ASSESSMENT; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PUPIL DISEASE; SCHOOL CHILD; SEQUENCE ANALYSIS; VISUAL ACUITY;

ADULT; CHILD; CHILD, PRESCHOOL; CODON, NONSENSE; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; ECTOPIA LENTIS; FEMALE; GENES, RECESSIVE; HETEROZYGOTE; HUMANS; INFANT; INHERITANCE PATTERNS; MALE; MIDDLE AGED; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; PUPIL DISORDERS; THROMBOSPONDINS;

EID: 84876289021     PISSN: 00071161     EISSN: 14682079     Source Type: Journal    
DOI: 10.1136/bjophthalmol-2012-302367     Document Type: Article

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