ARX mutation in a boy with transsphenoidal encephalocele and hypopituitarism

This publication has 18 references indexed in Scilit:

• Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans
  Nature Genetics, 2002
• Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation
  American Journal of Medical Genetics, 2002
• ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation
  Human Molecular Genetics, 2002
• Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy
  Nature Genetics, 2002
• Basal encephaloceles with morning glory syndrome, and progressive hormonal and visual disturbances: case report and review of the literature
  Brain & Development, 1995
• X‐linked mental retardation with dystonic movements of the hands
  American Journal of Medical Genetics, 1988
• Anterior Basal Encephalocele of the Neonatal and Infantile Period
  Neurosurgery, 1986
• Anterior basal encephalocele of the neonatal and infantile period
  Neurosurgery, 1986
• Transsphenoidal encephaloceles
  Surgical Neurology, 1983
• A morphological classification of sincipital encephalomeningoceles
  Journal of Neurosurgery, 1972