Rare Diseases Symptoms Automatic Extraction

A short history of the initial discovery of the Wolf-Hirschhorn syndrome.

[wolf-hirschhorn syndrome]

Deletion of the short arm of chromosome 4 (4p-) was first described in 1961 [Hirschhorn and Cooper, 1961], and the second case of 4p- was published in 1965 [Hirschhorn et al., 1965]. This short history describes the original case and the sequence of events leading to the publications.

Diseases presenting "short arm" symptom

  • cystinuria
  • kindler syndrome
  • monosomy 21
  • pyruvate dehydrogenase deficiency
  • wiskott-aldrich syndrome
  • wolf-hirschhorn syndrome

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