Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations.

Passemard, S; Titomanlio, L; Elmaleh, M; Afenjar, A; Alessandri, J-L; Andria, G; de Villemeur, T Billette; Boespflug-Tanguy, O; Burglen, L; Del Giudice, E; Guimiot, F; Hyon, C; Isidor, B; Mégarbané, A; Moog, U; Odent, S; Hernandez, K; Pouvreau, N; Scala, I; Schaer, M; Gressens, P; Gerard, B; Verloes, Alain

Passemard, S; Titomanlio, L; Elmaleh, M; Afenjar, A; Alessandri, J-L; Andria, G; de Villemeur, T Billette; Boespflug-Tanguy, O; Burglen, L; Del Giudice, E; Guimiot, F; Hyon, C; Isidor, B; Mégarbané, A; Moog, U; Odent, S; Hernandez, K; Pouvreau, N; Scala, I; Schaer, M; Gressens, P; Gerard, B; Verloes, Alain.

Affiliation

Passemard S; Department of Clinical Genetics, U676, Hôpital Robert Debré, APHP, 75019 Paris, France.

Neurology ; 73(12): 962-9, 2009 Sep 22.

Article in En | MEDLINE | ID: mdl-19770472

Subject(s)

Genetic Predisposition to Disease/genetics; Head/abnormalities; Microcephaly/genetics; Mutation/genetics; Nerve Tissue Proteins/genetics; Adolescent; Adult; Child; Child, Preschool; DNA Mutational Analysis; Developmental Disabilities/genetics; Developmental Disabilities/physiopathology; Female; Genetic Testing; Genotype; Head/diagnostic imaging; Head/pathology; Humans; Infant; Intellectual Disability/genetics; Intellectual Disability/physiopathology; Magnetic Resonance Imaging; Male; Microcephaly/diagnostic imaging; Microcephaly/pathology; Phenotype; Pyramidal Tracts/physiopathology; Radiography; Seizures/genetics; Seizures/physiopathology; Skull/abnormalities; Skull/diagnostic imaging; Skull/pathology; Young Adult

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genetic Predisposition to Disease / Head / Microcephaly / Mutation / Nerve Tissue Proteins Type of study: Diagnostic_studies / Prognostic_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Language: En Journal: Neurology Year: 2009 Document type: Article

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