Smith-Lemli-Opitz syndrome in a female with a de novo, balanced translocation involving 7q32: Probable Disruption of an SLOS gene

This publication has 24 references indexed in Scilit:

• Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome
  The Lancet, 1993
• Smith-Lemli-Opitz syndrome type II: Report of a case with additional radiographic findings
  Pediatric Radiology, 1993
• Terminal deletions of the long arm of chromosome 7: Five new cases
  American Journal of Medical Genetics, 1990
• Apparent Smith-Lemli-Opitz syndrome and Miller-Dieker syndrome in a family with segregating translocation t(7;17)(q34;p13.1)
  American Journal of Medical Genetics, 1989
• De novo 2q+ masquerading as Smith-Lemli-Opitz syndrome.
  Journal of Medical Genetics, 1987
• Smith‐Lemli‐Opitz syndrome‐type II: Multiple congenital anomalies with male pseudohermaphroditism and frequent early lethality
  American Journal of Medical Genetics, 1987
• Possible abnormalities of steroid secretion in children with Smith-Lemli-Opitz syndrome and their parents
  Steroids, 1985
• Ocular Manifestations of the Smith-Lemli-Opitz Syndrome
  Archives of Ophthalmology (1950), 1981
• 7q deletion syndrome (7q32→7qter)
  Clinical Genetics, 1977
• Syndrome of retardation with urogenital and skeletal anomalies (Smith-Lemli-Opitz syndrome): clinical features and mode of inheritance.
  Journal of Medical Genetics, 1969