High myopia and congenital myopathy with partial pachygyria in cutis laxa syndrome

European Journal of Ophthalmology

Volumn 16, Issue 1, 2006, Pages 190-194

  Morava, Eva ^a   Willemsen, M A ^a   Wopereis, S ^a   Ter Laak, H ^a   Lefeber, D ^a   Wevers, R A ^a   Cruysberg, J R ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Autosomal recessive cutis laxa; High myopia; Myopathy; N glycosylation; O glycosylation; Pachygyria

Indexed keywords

ALPHA DYSTROGLYCAN; GLYCAN DERIVATIVE; MUCIN; O MANNOSYLGLYCAN; UNCLASSIFIED DRUG;

ARTICLE; BIOSYNTHESIS; BRAIN DISEASE; CASE REPORT; CELL MIGRATION; CEREBELLUM; CLINICAL FEATURE; CUTIS LAXA; DISEASE ASSOCIATION; EYE MALFORMATION; FEMALE; GLYCOSYLATION; HIGH MYOPIA; HUMAN; MUSCLE BIOPSY; MUSCLE HYPOTONIA; MUSCLE WEAKNESS; MUSCULAR DYSTROPHY; MYOPATHY; NEWBORN; PACHYGYRIA; PHENOTYPE; PRIORITY JOURNAL; WHITE MATTER;

EID: 33645542653     PISSN: 11206721     EISSN: None     Source Type: Journal    
DOI: 10.1177/112067210601600134     Document Type: Article

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