Eye and brain abnormalities in congenital muscular dystrophies caused by fukutin-related protein gene (FKRP) mutations

Pediatric Neurology

Volumn 49, Issue 5, 2013, Pages 374-378

  Kava, Maina ^a   Chitayat, David ^a   Blaser, Susan ^a   Ray, Peter N ^a   Vajsar, Jiri ^a  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

Author keywords

brain; congenital muscular dystrophy; eye; Fukutin related protein gene (FKRP); magnetic resonance imaging (MRI)

Indexed keywords

ARTICLE; BRAIN MALFORMATION; BRAIN VENTRICLE DILATATION; CASE REPORT; CHILD; CLINICAL FEATURE; ENCEPHALOCELE; EVOKED VISUAL RESPONSE; EXON; EYE MALFORMATION; FUKUTIN RELATED PROTEIN GENE; GENE; GENE MUTATION; HUMAN; MALE; MUSCULAR DYSTROPHY; MUTATIONAL ANALYSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; WALKER WARBURG SYNDROME;

BRAIN; CONGENITAL MUSCULAR DYSTROPHY; EYE; FUKUTIN-RELATED PROTEIN GENE (FKRP); MAGNETIC RESONANCE IMAGING (MRI);

BRAIN; CLEFT LIP; CLEFT PALATE; ECTODERMAL DYSPLASIA; EYE DISEASES, HEREDITARY; FLUORESCEIN ANGIOGRAPHY; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; PROTEINS;

EID: 84886668937     PISSN: 08878994     EISSN: 18735150     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2013.06.022     Document Type: Article

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