Childhood presentation of COL4A1 mutations

Developmental Medicine and Child Neurology

Volumn 54, Issue 6, 2012, Pages 569-574

  Shah, Siddharth ^a   Ellard, Sian ^b   Kneen, Rachel ^c   Lim, Ming ^d   Osborne, Nigel ^b   Rankin, Julia ^b   Stoodley, Neil ^e   Van Der Knaap, Marjo ^f   Whitney, Andrea ^g   Jardine, Philip ^a  

^a BRISTOL ROYAL HOSPITAL FOR CHILDREN   (United Kingdom)

^b ROYAL DEVON AND EXETER NHS FOUNDATION TRUST   (United Kingdom)

^c ALDER HEY CHILDREN'S NHS FOUNDATION TRUST   (United Kingdom)

^d EVELINA LONDON CHILDREN S HOSPITAL   (United Kingdom)

^e NORTH BRISTOL NHS TRUST   (United Kingdom)

^f VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^g UNIVERSITY HOSPITAL SOUTHAMPTON NHS FOUNDATION TRUST   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CREATINE KINASE;

ADOLESCENT; ARTICLE; ASTIGMATISM; BRAIN HEMORRHAGE; CASE REPORT; CHILD; CHILDHOOD DISEASE; CHROMOSOME ANALYSIS; COL4A1 GENE; CONGENITAL CATARACT; CREATINE KINASE BLOOD LEVEL; FAMILY HISTORY; FEMALE; GENE; GENE MUTATION; HEMIPLEGIA; HUMAN; INFANT; KARYOTYPE; KARYOTYPE 47,XYY; LEARNING DISORDER; MALE; MICROCEPHALY; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; PRIORITY JOURNAL; QUADRIPLEGIA; RETROSPECTIVE STUDY; SCHOOL CHILD; STROKE; WHITE MATTER;

ADOLESCENT; BRAIN; BRAIN DISEASES; CHILD; CHILD, PRESCHOOL; COLLAGEN TYPE IV; EYE ABNORMALITIES; FAMILY HEALTH; FEMALE; HEMIPLEGIA; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; RETROSPECTIVE STUDIES;

EID: 84860888431     PISSN: 00121622     EISSN: 14698749     Source Type: Journal    
DOI: 10.1111/j.1469-8749.2011.04198.x     Document Type: Article

References (17)

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