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GAPO syndrome: report of three affected brothers.

作者信息

Gagliardi A R, González C H, Pratesi R

出版信息

Am J Med Genet. 1984 Oct;19(2):217-23. doi: 10.1002/ajmg.1320190203.

Abstract

We present a sibship of three brothers affected with the GAPO syndrome. This is a rare and very characteristic autosomal-recessive trait whose main manifestations are growth retardation, alopecia, pseudo anodontia, and optic atrophy. So far nine affected individuals are known (4 males and 5 females). Two of them, the patient of Andersen and Pindborg cited in Tipton and Gorlin [1983] and one of the cases of Wajntal et al [1982], died at 39 and 37 years respectively.

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