title: Previously reported new type of autosomal recessive primary microcephaly is caused by compound heterozygous ASPM gene mutations.
authors.affiliation: Max Planck Institute for Molecular Genetics; Berlin, Germany.
authors.forename: Hao
authors.initials: H
authors.lastname: Hu
authors.affiliation: Max Planck Institute for Molecular Genetics; Berlin, Germany.
authors.forename: Vanessa
authors.initials: V
authors.lastname: Suckow
authors.affiliation: Max Planck Institute for Molecular Genetics; Berlin, Germany.
authors.forename: Luciana
authors.initials: L
authors.lastname: Musante
authors.affiliation: Department of Pediatric Neurology; Charité University Medicine Berlin; Berlin, Germany.
authors.forename: Viola
authors.initials: V
authors.lastname: Roggenkamp
authors.affiliation: Department of Pediatric Neurology; Charité University Medicine Berlin; Berlin, Germany; Institute of Cell Biology and Neurobiology; Charité University Medicine Berlin; Berlin, Germany.
authors.forename: Nadine
authors.initials: N
authors.lastname: Kraemer
authors.affiliation: Max Planck Institute for Molecular Genetics; Berlin, Germany.
authors.forename: Hans-Hilger
authors.initials: HH
authors.lastname: Ropers
authors.affiliation: Department of Pediatric Neurology; Charité University Medicine Berlin; Berlin, Germany.
authors.forename: Christoph
authors.initials: C
authors.lastname: Hübner
authors.affiliation: Max Planck Institute for Molecular Genetics; Berlin, Germany.
authors.forename: Thomas F
authors.initials: TF
authors.lastname: Wienker
authors.affiliation: Department of Pediatric Neurology; Charité University Medicine Berlin; Berlin, Germany; Institute of Cell Biology and Neurobiology; Charité University Medicine Berlin; Berlin, Germany.
authors.forename: Angela M
authors.initials: AM
authors.lastname: Kaindl
mesh_terms: D002868:Chromosomal Proteins, Non-Histone / Q000378:metabolism*; D020090:Chromosome Segregation; D005260:Female; D006801:Humans; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D017346:Protein Serine-Threonine Kinases / Q000378:metabolism*
chemical_list: D002868:Chromosomal Proteins, Non-Histone; D017346:Protein Serine-Threonine Kinases
keywords: ASPM; MCPH; Reunion paradox; compound heterozygous mutation; congenital microcephaly; intellectual deficit