Ocular manifestations of microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) syndrome associated with mutations in KIF11

Acta Ophthalmologica

Volumn 94, Issue 1, 2016, Pages 92-98

  Balikova, Irina ^a,b   Robson, Anthony G ^a,c   Holder, Graham E ^a,c   Ostergaard, Pia ^d   Mansour, Sahar ^e   Moore, Anthony T ^a,c  

^a MOORFIELDS EYE HOSPITAL   (United Kingdom)

^b FREE UNIVERSITY OF BRUSSELS   (Belgium)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

^e ST GEORGE'S UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

Author keywords

chorioretinopathy; electroretinography; MCLID; MCLMR; microcephaly; paediatric retina; retinal dystrophy

Indexed keywords

ARTICLE; ASTIGMATISM; AUTOFLUORESCENCE IMAGING; AUTOSOMAL DOMINANT DISORDER; BLINDNESS; CHILD; CHORIORETINOPATHY; CLINICAL ARTICLE; CONTROLLED STUDY; ELECTRORETINOGRAPHY; EYE DISEASE; EYE REFRACTION; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; HUMAN; HYPERMETROPIA; IMAGE ANALYSIS; INTELLECTUAL IMPAIRMENT; KIF11 GENE; LYMPHEDEMA; MALE; MCLID SYNDROME; MICROCEPHALY; MUTATIONAL ANALYSIS; OPHTHALMOSCOPY; PRIORITY JOURNAL; SCHOOL CHILD; SPECTRAL DOMAIN OPTICAL COHERENCE TOMOGRAPHY; VISUAL ACUITY; FACIES; FLUORESCENCE IMAGING; GENETICS; MUTATION; OPTICAL COHERENCE TOMOGRAPHY; PHENOTYPE; PRESCHOOL CHILD; RETINAL DISEASES; RETINAL DYSPLASIA;

KIF11 PROTEIN, HUMAN; KINESIN;

CHILD; CHILD, PRESCHOOL; ELECTRORETINOGRAPHY; FACIES; FEMALE; HUMANS; KINESIN; LYMPHEDEMA; MALE; MICROCEPHALY; MUTATION; OPTICAL IMAGING; PHENOTYPE; RETINAL DISEASES; RETINAL DYSPLASIA; TOMOGRAPHY, OPTICAL COHERENCE; VISUAL ACUITY;

EID: 84955716569     PISSN: 1755375X     EISSN: 17553768     Source Type: Journal    
DOI: 10.1111/aos.12759     Document Type: Article

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