X-linked disorders with cerebellar dysgenesis

Orphanet Journal of Rare Diseases

Volumn 6, Issue 1, 2011, Pages

  Zanni, Ginevra ^a   Bertini, Enrico S ^a  

^a BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM CALMODULIN DEPENDENT PROTEIN KINASE; METHYL CPG BINDING PROTEIN 2;

AGYRIA; BRAIN DISEASE; BRAIN MALFORMATION; BRAIN SIZE; CEREBELLAR ATAXIA; CEREBELLAR PEDUNCLE; CEREBELLUM ATROPHY; CEREBELLUM HYPOPLASIA; CHRISTIANSON SYNDROME; DIFFERENTIAL DIAGNOSIS; DISEASE COURSE; EXON; FOLLOW UP; FRAGILE X SYNDROME; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENETIC ASSOCIATION; GENETIC COUNSELING; HETEROTAXY SYNDROME; HUMAN; HYDROCEPHALUS; INTELLECTUAL IMPAIRMENT; JOUBERT SYNDROME; MUSCLE HYPOTONIA; NEUROLOGIC EXAMINATION; NONHUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; OPITZ SYNDROME; PRENATAL DIAGNOSIS; RETT SYNDROME; REVIEW; TRACTOGRAPHY; VOXEL BASED MORPHOMETRY; X CHROMOSOME; X LINKED DISORDERS WITH CEREBELLAR DYSGENESIS; X LINKED SIDEROBLASTIC ANEMIA; ATAXIA; CEREBELLUM DISEASE; FEMALE; GENE DUPLICATION; GENETICS; MALE; PATHOLOGY; X CHROMOSOME LINKED DISORDER;

ATAXIA; CEREBELLAR DISEASES; CHROMOSOMES, HUMAN, X; FEMALE; GENE DUPLICATION; GENETIC DISEASES, X-LINKED; HUMANS; MALE;

EID: 79955863796     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-6-24     Document Type: Review

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