Home LiteratureArticle Details
PMID: 5046629 Published · ppublish English Journal Article

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

Journal of medical genetics ·Vol. 9 ·No. 2 ·1972-06-00 ·Pages 193-6

Mirhosseini SA, Holmes LB, Walton DS

Abstract

暂无摘要

MeSH Terms
Abnormalities, Multiple/genetics Adult Cataract/genetics Fingers/abnormalities Humans Hypogonadism/genetics Intellectual Disability/genetics Joints/abnormalities Kyphosis/genetics Male Marfan Syndrome/genetics Microcephaly/genetics Retinal Degeneration/genetics Syndrome Toes/abnormalities
Authors & Affiliations
3 authors, click to expand affiliations / ORCID
Mirhosseini S A
Holmes L B
Walton D S
References (10)
10 references, click to expand
  1. Radioimmunoassay of human follicle stimulating and luteinizing hormones in plasma.
    J Clin Endocrinol Metab. 1968 Apr;28(4):519-34 PMID: 5689398
  2. A simple screening test for the Marfan syndrome.
    Am J Roentgenol Radium Ther Nucl Med. 1966 May;97(1):118-24 PMID: 5938029
  3. Chorioretinopathy with hereditary microcephaly.
    Arch Ophthalmol. 1966 May;75(5):597-600 PMID: 5936364
  4. The Laurence-Moon-Biedl syndrome. Report of a typical case with complete necropsy.
    Am J Ophthalmol. 1951 Jun;34(6):874-84 PMID: 14838066
  5. Laurence-Moon-Biedl syndrome. Report of an unusual family.
    Am J Dis Child. 1961 Apr;101:519-24 PMID: 13693610
  6. Rapid micro-modification of the Zimmermann/Callow procedure for the determination of 17-ketosteroids in urine.
    Acta Endocrinol (Copenh). 1951;8(3):193-214 PMID: 14902291
  7. Familial syndrome of primary testicular insufficiency with normal virilization, blindness, deafness and metabolic abnormalities.
    N Engl J Med. 1969 Oct 30;281(18):969-77 PMID: 5824738
  8. THE METACARPAL INDEX. A USEFUL AID IN THE DIAGNOSIS OF THE MARFAN SYNDROME.
    Arch Intern Med. 1964 Feb;113:248-54 PMID: 14090393
  9. 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 PMID: 14399116
  10. Familial spastic paraplegia with amyotrophy, oligophrenia, and central retinal degeneration.
    Arch Neurol. 1959 Aug;1:133-40 PMID: 14409555
Article Info
Journal
Journal of medical genetics
Abbr.
J Med Genet
ISSN
0022-2593
DOI
10.1136/jmg.9.2.193
Published
1972-06-00
Pages
193-6
Language
English
Region
England
NLM ID
2985087R
PMCID
PMC1469024
Subset
IM
External Links
PubMed source DOI: 10.1136/jmg.9.2.193 PMC Full Text View journal details
Analysis Services
Analysis Services

Contact

No. 2 Wenbo Road, Zhangqiu District, Jinan, Shandong

Qilu Normal University · Genelibs Bioinformatics Lab

750 Shunhua Rd, Jinan

2F, Bldg F, University Science Park

Tel: 0531-88819269

WeChat Official Account

Follow our WeChat subscription account for real-time updates and the latest in medical and biological research.


Business Email

E-mail: product@genelibs.com

Copyright © 2026.Genelibs Jinan Honghui Biotechnology Co., Ltd. 鲁ICP备20007159号-2