A translocation breakpoint disrupts the ASPM gene in a patient with primary microcephaly

This publication has 10 references indexed in Scilit:

• Protein-Truncating Mutations in ASPM Cause Variable Reduction in Brain Size
  American Journal of Human Genetics, 2003
• A novel locus for autosomal recessive primary microcephaly (MCPH6) maps to 13q12.2
  Journal of Medical Genetics, 2003
• Autosomal recessive primary microcephaly: an analysis of locus heterogeneity and phenotypic variation
  Journal of Medical Genetics, 2002
• ASPM is a major determinant of cerebral cortical size
  Nature Genetics, 2002
• Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome
  Nature Genetics, 2002
• Molecular genetics of human microcephaly
  Current Opinion in Neurology, 2001
• A Fifth Locus for Primary Autosomal Recessive Microcephaly Maps to Chromosome 1q31
  American Journal of Human Genetics, 2000
• Primary Autosomal Recessive Microcephaly: MCPH5 Maps to 1q25-q32
  American Journal of Human Genetics, 2000
• Disease associated balanced chromosome rearrangements: a resource for large scale genotype-phenotype delineation in man
  Journal of Medical Genetics, 2000
• Is a gene for microcephaly located on chromosome 1?
  Human Genetics, 1984