Article
Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations.
Neurology - 22 Sept 2009
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
Abstract excerpt
OBJECTIVE: To determine the spectrum of clinical, neuropsychological, and neuroradiologic features in patients with autosomal recessive primary microcephaly (MCPH) due to ASPM gene mutations. METHODS: ASPM was sequenced in 52 unrelated MCPH probands. In patients with ASPM mutations, we evaluated the clinical phenotype, cognition, behavior, brain MRI, and family. RESULTS: We found homozygous or compound...
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