Pachygyria and cerebellar hypoplasia in Goldberg–Shprintzen syndrome

This publication has 15 references indexed in Scilit:

• “Mowat‐Wilson” syndrome with and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies‐mental retardation syndrome caused by mutations in the zinc finger homeo box 1B gene
  American Journal of Medical Genetics, 2002
• Hirschsprung disease, mental retardation and dysmorphic facial features in five unrelated children
  Clinical Dysmorphology, 2001
• Neurological Phenotype in Waardenburg Syndrome Type 4 Correlates with Novel SOX10 Truncating Mutations and Expression in Developing Brain
  American Journal of Human Genetics, 2000
• Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23.
  Journal of Medical Genetics, 1998
• Hirschsprung disease, unusual face, mental retardation, epilepsy, and congenital heart disease: Goldberg-Shprintzen syndrome
  Pediatric Neurology, 1993
• Goldberg-Shprintzen syndrome: Hirschsprung disease, hypotonia, and ptosis in sibs
  American Journal of Medical Genetics, 1991
• The syndrome of hirschsprung disease, microcephaly, unusual face, and mental retardation
  American Journal of Medical Genetics, 1990
• Facial cleft and congenital megacolon: A specific disorder?
  American Journal of Medical Genetics, 1989
• Familial patterns of central nervous system dysfunction, growth deficiency, facial clefts and congenital megacolon: A specific disorder?
  American Journal of Medical Genetics, 1988
• Unknown syndrome: Hirschsprung's disease, microcephaly, and iris coloboma: a new syndrome of defective neuronal migration.
  Journal of Medical Genetics, 1988