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American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1965 Jul;17(4):325–342.

The Genetics of Angiokeratoma Corporis Diffusum (Fabry's Disease) and Its Linkage Relations with the Xg Locus[unk]

John M Opitz, Frank C Stiles, David Wise, R R Race, Ruth Sanger, George R Von Gemmingen, Robert R Kierland, E G Cross, W P De Groot
PMCID: PMC1932618  PMID: 17948499

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. ADAM A., SHEBA C., SANGER R., RACE R. R., TIPPETT P., HAMPER J., GAVIN J., FINNEY D. J. Data for X-mapping calculations, Israeli families tested for Xg, g-6-pd and for colour vision. Ann Hum Genet. 1963 Feb;26:187–194. doi: 10.1111/j.1469-1809.1963.tb01974.x. [DOI] [PubMed] [Google Scholar]
  2. BROWN A., MILNE J. A. Diffuse angiokeratoma: report of two cases with diffuse skin changes, one with neurological symptoms and splenomegaly. Glasgow Med J. 1952 Sep;33(9):361–367. [PMC free article] [PubMed] [Google Scholar]
  3. CLARK J. I., PUTTE R. H., MARCZYNSKI R., MANN J. D. Evidence for the absence of detectable linkage between the genes for Duchenne muscular dystrophy and the Xg blood group. Am J Hum Genet. 1963 Sep;15:292–297. [PMC free article] [PubMed] [Google Scholar]
  4. CROSS E. G. The familial occurrence of erythromelalgia and nephritis. Can Med Assoc J. 1962 Jul 7;87:1–4. [PMC free article] [PubMed] [Google Scholar]
  5. CURRY H. B., FLEISHER T. L. Angiokeratoma corporis diffusum--a case report. JAMA. 1961 Mar 11;175:864–868. doi: 10.1001/jama.1961.03040100028008. [DOI] [PubMed] [Google Scholar]
  6. DAVIES S. H., GAVIN J., GOLDSMITH K. L., GRAHAM J. B., HAMPER J., HARDISTY R. M., HARRIS J. B., HOLMAN C. A., INGRAM G. I., JONES T. G. THE LINKAGE RELATIONS OF HEMOPHILIA A AND HEMOPHILIA B (CHRISTMAS DISEASE) TO THE XG BLOOD GROUP SYSTEM. Am J Hum Genet. 1963 Dec;15:481–492. [PMC free article] [PubMed] [Google Scholar]
  7. HENRY E. W., RALLY C. R. The renal lesion in angiokeratoma corporis diffusum (Fabry's disease). Can Med Assoc J. 1963 Aug 3;89:206–213. [PMC free article] [PubMed] [Google Scholar]
  8. HOFMANN A., HAUSER W. [Angiokeratoma corporis diffusum (Fabry) with cerebral manifestations]. Dtsch Z Nervenheilkd. 1962;183:351–362. [PubMed] [Google Scholar]
  9. HORNBOSTEL H. Das Angiokeratoma corporis diffusum universale mit kardiovaso-renalem Symptomenkomplex als neuartige Thesaurismoseform. Helv Med Acta. 1952 Oct;19(4-5):388–396. [PubMed] [Google Scholar]
  10. HORNBOSTEL H., SCRIBA K. Zur Diagnostik des Angiokeratoma Fabry mit kardio-vasorenalem Symptomenkomplex als Phosphatidspeicherungskrankheit durch Probeexcision der Haut. Klin Wochenschr. 1953 Jan 15;31(3-4):68–69. doi: 10.1007/BF01478472. [DOI] [PubMed] [Google Scholar]
  11. HORNBOSTEL H., SPIER W., KOCH H. Angiokeratoma corporis diffusum universale (Fabry) mit cardio-vasorenalem Symptomenkomplex als Allgemeinerkrankung. Arztl Wochensch. 1951 Jan 19;6(3):49–55. [PubMed] [Google Scholar]
  12. KARR W. J., Jr Fabry's disease (angiokeratoma corporis diffusum universale). An unusual syndrome with multisystem involvement and unique skin manifestations. Am J Med. 1959 Nov;27:829–835. doi: 10.1016/0002-9343(59)90200-1. [DOI] [PubMed] [Google Scholar]
  13. MORTON N. E. Sequential tests for the detection of linkage. Am J Hum Genet. 1955 Sep;7(3):277–318. [PMC free article] [PubMed] [Google Scholar]
  14. PITTELKOW R. B., KIERLAND R. R., MONTGOMERY H. Angiokeratoma corporis diffusum. AMA Arch Derm. 1955 Dec;72(6):556–561. doi: 10.1001/archderm.1955.03730360062007. [DOI] [PubMed] [Google Scholar]
  15. PITTELKOW R. B., KIERLAND R. R., MONTGOMERY H. Polariscopic and histochemical studies in angiokeratoma corporis diffusum. AMA Arch Derm. 1957 Jul;76(1):59–64. doi: 10.1001/archderm.1957.01550190063012. [DOI] [PubMed] [Google Scholar]
  16. PRICE J. H. Angiokeratoma corporis diffusum. Br J Dermatol. 1955 Mar;67(3):105–109. doi: 10.1111/j.1365-2133.1955.tb12700.x. [DOI] [PubMed] [Google Scholar]
  17. RAHMAN A. N., LINDENBERG R. THE NEUROPATHOLOGY OF HEREDITARY DYSTOPIC LIPIDOSIS. Arch Neurol. 1963 Oct;9:373–385. doi: 10.1001/archneur.1963.00460100061007. [DOI] [PubMed] [Google Scholar]
  18. RAHMAN A. N., SIMEONE F. A., HACKEL D. B., HALL P. W., 3rd, HIRSCH E. Z., HARRIS J. W. Angiokeratoma corporis diffusum universale (hereditary dystopic lipidosis). Trans Assoc Am Physicians. 1961;74:366–377. [PubMed] [Google Scholar]
  19. RAHMAN A. N. The ocular manifestations of hereditary dystopic lipidosis (angiokeratoma corporis diffusum universale). Arch Ophthalmol. 1963 Jun;69:708–716. doi: 10.1001/archopht.1963.00960040714005. [DOI] [PubMed] [Google Scholar]
  20. RUITER M. Angiokeratoma corporis diffusum (universale) Fabry als Symptom einer Phosphatidspeicherungskrankheit. Hautarzt. 1952 Dec;3(12):557–559. [PubMed] [Google Scholar]
  21. RUITER M. Angiokeratoma corporis diffusum. Excerpta Med (Dermatol) 1959 Feb;13(2):61–64. [PubMed] [Google Scholar]
  22. RUITER M. Histological investigation of the skin in angiokeratoma corporis diffusum in particular with regard to the associated disturbance of phosphatid metabolism. Dermatologica. 1954 Nov;109(5):273–286. doi: 10.1159/000256698. [DOI] [PubMed] [Google Scholar]
  23. SANGER R., ADAM A. XG AND G-6-PD IN ISRAELI FAMILIES: AN ADDENDUM. Ann Hum Genet. 1964 Mar;27:271–272. doi: 10.1111/j.1469-1809.1963.tb00794.x. [DOI] [PubMed] [Google Scholar]
  24. SIGUIER F., DUPERRAT B., BETOURNE C., HANAUT A. Angiokératose de Fabry, expression cutanée d'une maladie générale, nouvellement individualisée. Bull Mem Soc Med Hop Paris. 1956 Mar 9;72(9-11):291–300. [PubMed] [Google Scholar]
  25. SWEELEY C. C., KLIONSKY B. FABRY'S DISEASE: CLASSIFICATION AS A SPHINGOLIPIDOSIS AND PARTIAL CHARACTERIZATION OF A NOVEL GLYCOLIPID. J Biol Chem. 1963 Sep;238:3148–3150. [PubMed] [Google Scholar]
  26. Sibley W. K. Case for Diagnosis. Proc R Soc Med. 1918;11(DERMATOL):70–73. [PMC free article] [PubMed] [Google Scholar]
  27. VAN WAYJEN R. G. Entero-colitis als symptoom van angiokeratoma corporis diffusum (thesaurismosis Ruiter-Pompen-Wyers-Kühnau). Ned Tijdschr Geneeskd. 1958 Sep 27;102(39):1941–1943. [PubMed] [Google Scholar]
  28. VINEYARD W. R., KAMIN E. J. Angiokeratoma corporis diffusum. Arch Dermatol. 1960 Nov;82:817–819. doi: 10.1001/archderm.1960.01580050159024. [DOI] [PubMed] [Google Scholar]
  29. VONGEMMINGEN G., KIERLAND R. R., OPITZ J. M. ANGIOKERATOMA CORPORIS DIFFUSUM (FABRY'S DISEASE). Arch Dermatol. 1965 Mar;91:206–218. [PubMed] [Google Scholar]
  30. WISE D., WALLACE H. J., JELLINEK E. H. Angiokeratoma corporis diffusum. A clinical study of eight affected families. Q J Med. 1962 Apr;31:177–206. [PubMed] [Google Scholar]

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