Leucodysplasia, microcephaly, cerebral malformation (LMC): A novel recessive disorder linked to 2p16

Brain

Volumn 129, Issue 1, 2006, Pages 272-277

  Chandler, K E ^a   Del Rio, A ^b   Rakshi, K ^b   Springell, K ^c   Williams, D K ^d   Stoodley, N ^e   Woods, C G ^f   Pilz, D T ^g  

^a Hopital Manchester Centre Hospitalier de Charleville Mezieres   (France)

^b Queens Park Hospital   (United Kingdom)

^c UNIVERSITY OF LEEDS   (United Kingdom)

^d BIRMINGHAM WOMEN S HOSPITAL   (United Kingdom)

^e FRENCHAY HOSPITAL   (United Kingdom)

^f UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^g UNIVERSITY HOSPITAL OF WALES   (United Kingdom)

Author keywords

Autosomal recessive; Cerebral malformation; Leucodysplasia; Microcephaly; Neonatal seizures

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BRAIN CORTEX; BRAIN CYST; BRAIN GROWTH; BRAIN MALFORMATION; BRAIN STEM; BRAIN VENTRICLE DILATATION; CASE REPORT; CHROMOSOME 2P; CONGENITAL HYPOTHYROIDISM; CONSANGUINITY; CORPUS CALLOSUM AGENESIS; DEATH; DEVELOPMENTAL DISORDER; DISEASE COURSE; DISEASE SEVERITY; ELECTROENCEPHALOGRAM; FAMILY; FEMALE; GENE IDENTIFICATION; GENE MAPPING; GENETIC LINKAGE; GROWTH DISORDER; HOMOZYGOSITY; HUMAN; INTRACTABLE EPILEPSY; LATERAL BRAIN VENTRICLE; LEUKODYSPLASIA; LEUKODYSTROPHY; LIFE; MALE; MICROCEPHALY; NERVOUS SYSTEM DEVELOPMENT; NEUROIMAGING; NUCLEOTIDE SEQUENCE; OCCIPITAL LOBE; PERINATAL PERIOD; PRIORITY JOURNAL; SCIENCE; TEMPORAL LOBE; THICKNESS; WHITE MATTER;

ABNORMALITIES, MULTIPLE; BRAIN; CEREBRAL VENTRICLES; CHROMOSOMES, HUMAN, PAIR 2; CONSANGUINITY; FACIES; FEMALE; GENES, RECESSIVE; GENETIC MARKERS; GENOTYPE; HOMOZYGOTE; HUMANS; INFANT, NEWBORN; MAGNETIC RESONANCE IMAGING; MALE; MICROCEPHALY; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; SEIZURES; SYNDROME;

EID: 30344432398     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awh663     Document Type: Article

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