PMCCPMCCPMCC

Search tips
Search criteria 

Advanced

 
Logo of jmedgeneJournal of Medical GeneticsVisit this articleSubmit a manuscriptReceive email alertsContact usBMJ
 
J Med Genet. 1972 June; 9(2): 193–196.
PMCID: PMC1469024

Syndrome of pigmentary retinal degeneration, cataract, microcephaly, and severe mental retardation.

Full text

Full text is available as a scanned copy of the original print version. Get a printable copy (PDF file) of the complete article (1.0M), or click on a page image below to browse page by page. Links to PubMed are also available for Selected References.

Images in this article

Selected References

These references are in PubMed. This may not be the complete list of references from this article.
  • BISLAND T. The Laurence-Moon-Biedl syndrome. Report of a typical case with complete necropsy. Am J Ophthalmol. 1951 Jun;34(6):874–884. [PubMed]
  • CICCARELLI EC, VESELL ES. Laurence-Moon-Biedl syndrome. Report of an unusual family. Am J Dis Child. 1961 Apr;101:519–524. [PubMed]
  • ELDRIDGE R. THE METACARPAL INDEX. A USEFUL AID IN THE DIAGNOSIS OF THE MARFAN SYNDROME. Arch Intern Med. 1964 Feb;113:248–254. [PubMed]
  • HALLGREN B. Retinitis pigmentosa combined with congenital deafness; with vestibulo-cerebellar ataxia and mental abnormality in a proportion of cases: A clinical and genetico-statistical study. Acta Psychiatr Scand Suppl. 1959;34(138):1–101. [PubMed]
  • KJELLIN K. Familial spastic paraplegia with amyotrophy, oligophrenia, and central retinal degeneration. Arch Neurol. 1959 Aug;1:133–140. [PubMed]
  • McKusick VA, Stauffer M, Knox DL, Clark DB. Chorioretinopathy with hereditary microcephaly. Arch Ophthalmol. 1966 May;75(5):597–600. [PubMed]
  • Saxena BB, Demura H, Gandy HM, Peterson RE. Radioimmunoassay of human follicle stimulating and luteinizing hormones in plasma. J Clin Endocrinol Metab. 1968 Apr;28(4):519–534. [PubMed]
  • Steinberg I. A simple screening test for the Marfan syndrome. Am J Roentgenol Radium Ther Nucl Med. 1966 May;97(1):118–124. [PubMed]
  • VESTERGAARD P. Rapid micro-modification of the Zimmermann/Callow procedure for the determination of 17-ketosteroids in urine. Acta Endocrinol (Copenh) 1951;8(3):193–214. [PubMed]
  • Weinstein RL, Kliman B, Scully RE. Familial syndrome of primary testicular insufficiency with normal virilization, blindness, deafness and metabolic abnormalities. N Engl J Med. 1969 Oct 30;281(18):969–977. [PubMed]

Articles from Journal of Medical Genetics are provided here courtesy of BMJ Group