Congenital cataract, ataxia, external ophthalmoplegia and dysphagia in two siblings. A Marinesco-Sjögren-like syndrome

Neuropediatrics

Volumn 38, Issue 2, 2007, Pages 88-90

  Schulz, S ^a,b   Vielhaber, S ^a   Muschke, P ^a   Mohnike, K ^a   Gooding, R ^b   Wieacker, P ^a  

^a OTTO VON GUERICKE UNIVERSITY   (Germany)

^b UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

Author keywords

Ataxia; Congenital cataract; Mental retardation; Microcephaly; Ophthalmoplegia

Indexed keywords

ARTICLE; ATAXIA; BRAIN ATROPHY; CASE REPORT; CATARACT; CHILD; CHROMOSOME 5Q; CLINICAL FEATURE; DYSPHAGIA; EXON; EXTERNAL OPHTHALMOPLEGIA; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC COUNSELING; HUMAN; MALE; MARINESCO SJOGREN SYNDROME; MENTAL DEFICIENCY; MOTOR DYSFUNCTION; NEUROLOGIC EXAMINATION; PRIORITY JOURNAL; SIBLING;

ADULT; CATARACT; CEREBELLAR ATAXIA; CHILD; DEGLUTITION DISORDERS; FEMALE; GUANINE NUCLEOTIDE EXCHANGE FACTORS; HUMANS; INFANT; MALE; OPHTHALMOPLEGIA; SPINOCEREBELLAR DEGENERATIONS; SYNDROME;

EID: 34548767187     PISSN: 0174304X     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2007-984448     Document Type: Article

References (7)

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