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J R Soc Med. 1986 February; 79(2): 113–114.
PMCID: PMC1290197

Cartilage hair hypoplasia with thrombocytopenic purpura, autoimmune haemolytic anaemia and cell-mediated immunodeficiency.

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Selected References

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  • MCKUSICK VA, ELDRIDGE R, HOSTETLER JA, RUANGWIT U, EGELAND JA. DWARFISM IN THE AMISH. II. CARTILAGE-HAIR HYPOPLASIA. Bull Johns Hopkins Hosp. 1965 May;116:285–326. [PubMed]
  • Harris RE, Baehner RL, Gleiser S, Weaver DD, Hodes ME. Cartilage-hair hypoplasia, defective T-cell function, and Diamond-Blackfan anemia in an Amish child. Am J Med Genet. 1981;8(3):291–297. [PubMed]
  • Lux SE, Johnston RB, Jr, August CS, Say B, Penchaszadeh VB, Rosen FS, McKusick VA. Chronic neutropenia and abnormal cellular immunity in cartilage-hair hypoplasia. N Engl J Med. 1970 Jan 29;282(5):231–236. [PubMed]
  • Trojak JE, Polmar SH, Winkelstein JA, Hsu S, Francomano C, Pierce GF, Scillian JJ, Gale AN, McKusick VA. Immunologic studies of cartilage-hair hypoplasia in the Amish. Johns Hopkins Med J. 1981 Apr;148(4):157–164. [PubMed]
  • Saulsbury FT, Winkelstein JA, Davis LE, Hsu SH, D'Souza BJ, Gutcher GR, Butler IJ. Combined immunodeficiency and vaccine-related poliomyelitis in a child with cartilage-hair hypoplasia. J Pediatr. 1975 Jun;86(6):868–872. [PubMed]
  • Steele RW, Britton HA, Anderson CT, Kniker WT. Severe combined immunodeficiency with cartilage-hair hypoplasa: in vitro response to thymosin and attempted reconstitution. Pediatr Res. 1976 Dec;10(12):1003–1005. [PubMed]
  • Virolainen M, Savilahti E, Kaitila I, Perheentupa J. Cellular and humoral immmunity in cartilage-hair hypoplasia. Pediatr Res. 1978 Oct;12(10):961–966. [PubMed]

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