|
|
Volumn 256, Issue 3, 2009, Pages 416-419
|
|
Pontocerebellar hypoplasia type III (CLAM): Extended phenotype and novel molecular findings
|
|
Author keywords
Cerebellar atrophy; CLAM; Homozygosity; Pontocerebellar hypoplasia; Progressive microcephaly
|
|
Indexed keywords
ARTICLE;
BRAIN STEM;
CASE REPORT;
CEREBELLUM ATROPHY;
CEREBELLUM HYPOPLASIA;
CHILD;
CLINICAL FEATURE;
CORPUS CALLOSUM;
CORPUS CAVERNOSUM;
CROT GENE;
ELECTROENCEPHALOGRAM;
EVOKED BRAIN STEM AUDITORY RESPONSE;
EVOKED VISUAL RESPONSE;
FEMALE;
GENE MUTATION;
GENE SEQUENCE;
HEARING LOSS;
HOMOZYGOSITY;
HUMAN;
MENTAL DEFICIENCY;
MICROCEPHALY;
NUCLEAR MAGNETIC RESONANCE IMAGING;
OPTIC NERVE ATROPHY;
PONTOCEREBELLAR HYPOPLASIA TYPE III;
PRESCHOOL CHILD;
PRIORITY JOURNAL;
SHORT STATURE;
SLC25A40 GENE;
BODY HEIGHT;
BRAIN;
BRAIN DISEASES;
CEREBELLAR DISEASES;
CHILD, PRESCHOOL;
DEVELOPMENTAL DISABILITIES;
ELECTROENCEPHALOGRAPHY;
EVOKED POTENTIALS, AUDITORY, BRAIN STEM;
EVOKED POTENTIALS, VISUAL;
FEMALE;
HEARING LOSS;
HUMANS;
MAGNETIC RESONANCE IMAGING;
MICROCEPHALY;
OPTIC ATROPHY;
PHENOTYPE;
SEIZURES;
SEQUENCE ANALYSIS, DNA;
|
|
EID: 67349236423
PISSN: 03405354
EISSN: 14321459
Source Type: Journal
DOI: 10.1007/s00415-009-0094-0 Document Type: Article |
|
Times cited : (28)
|
|
References (11)
|
