Ophthalmologic findings in Cornelia de Lange syndrome: A genotype-phenotype correlation study

Archives of Ophthalmology

Volumn 124, Issue 4, 2006, Pages 552-557

  Nallasamy, Sudha ^a   Kherani, Femida ^a   Yaeger, Dinah ^a   McCallum, Jennifer ^a   Kaur, Maninder ^a   Devoto, Marcella ^c,d   Jackson, Laird G ^a,b   Krantz, Ian D ^a   Young, Terri L ^a,e  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b DREXEL UNIVERSITY COLLEGE OF MEDICINE   (United States)

^c NEMOURS ALFRED I DUPONT HOSPITAL FOR CHILDREN   (United States)

^d UNIVERSITY OF GENOA   (Italy)

^e DUKE UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN; PROTEIN NIPBL; UNCLASSIFIED DRUG;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; CORRELATION ANALYSIS; DE LANGE SYNDROME; DISEASE SEVERITY; FRAMESHIFT MUTATION; GENETIC SCREENING; GENOTYPE; HUMAN; LACRIMAL DUCT OCCLUSION; MEDICAL RECORD; MISSENSE MUTATION; MYOPIA; NONSENSE MUTATION; OPHTHALMOLOGY; PHENOTYPE; PRIORITY JOURNAL; PTOSIS; RETROSPECTIVE STUDY; STATISTICAL ANALYSIS; STRABISMUS;

ADOLESCENT; ADULT; BLEPHAROPTOSIS; CHILD; CHILD, PRESCHOOL; CODON, NONSENSE; DE LANGE SYNDROME; EYE DISEASES; FEMALE; FRAMESHIFT MUTATION; GENOTYPE; HUMANS; INFANT; LACRIMAL DUCT OBSTRUCTION; MALE; MUTATION, MISSENSE; MYOPIA; PHENOTYPE; PROTEINS; RETROSPECTIVE STUDIES; STRABISMUS;

EID: 33645845720     PISSN: 00039950     EISSN: 00039950     Source Type: Journal    
DOI: 10.1001/archopht.124.4.552     Document Type: Article

References (17)

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