The very low density lipoprotein receptor-associated pontocerebellar hypoplasia and dysmorphic features in three Turkish patients

Journal of Child Neurology

Volumn 28, Issue 3, 2013, Pages 379-383

  Sonmez, Fatma Mujgan ^a   Gleeson, Joseph G ^b   Celep, Figen ^c   Kul, Sibel ^c  

^a FATIH UNIVERSITY   (Turkey)

^b HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^c KARADENIZ TECHNICAL UNIVERSITY   (Turkey)

Author keywords

dysmorphic features; pontocerebellar hypoplasia; reelin; VLDLR mutation

Indexed keywords

VERY LOW DENSITY LIPOPROTEIN RECEPTOR;

ADULT; ALLELE; ARTICLE; ATAXIA; BIOINFORMATICS; CASE REPORT; CEREBELLUM HYPOPLASIA; CHILD; CHROMOSOME 9; COGNITIVE DEFECT; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; HOMOZYGOSITY; HUMAN; HYPERREFLEXIA; LINKAGE ANALYSIS; MALE; MICROCEPHALY; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; OPEN READING FRAME; PONTOCEREBELLAR HYPOPLASIA; PRESCHOOL CHILD; PRIORITY JOURNAL; SPASTICITY; SPEECH DISORDER; STOP CODON; STRABISMUS; TREMOR; TURKEY (REPUBLIC);

ADULT; ATROPHY; BRAIN; CHILD, PRESCHOOL; FEMALE; HUMANS; INTELLECTUAL DISABILITY; MAGNETIC RESONANCE IMAGING; MALE; MALFORMATIONS OF CORTICAL DEVELOPMENT; MUTATION; OLIVOPONTOCEREBELLAR ATROPHIES; RECEPTORS, LDL; SIBLINGS; TURKEY;

EID: 84867315784     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073812441065     Document Type: Article

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