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Schneider A, Mayer U, Gebhart E, et al. Clastogen-induced fragility may differentiate pancytopenia of congenital dyskeratosis from Fanconi anaemia. Eur J Pediatr. 1988;148(1):37-9doi: 10.1007/BF00441811.
Schneider, A., Mayer, U., Gebhart, E., Harms, D., Gromball, J., Glöckel, U., & Beck, J. D. (1988). Clastogen-induced fragility may differentiate pancytopenia of congenital dyskeratosis from Fanconi anaemia. European journal of pediatrics, 148(1), 37-9. https://doi.org/10.1007/BF00441811
Schneider, A, et al. "Clastogen-induced fragility may differentiate pancytopenia of congenital dyskeratosis from Fanconi anaemia." European journal of pediatrics vol. 148,1 (1988): 37-9. doi: https://doi.org/10.1007/BF00441811
Schneider A, Mayer U, Gebhart E, Harms D, Gromball J, Glöckel U, Beck JD. Clastogen-induced fragility may differentiate pancytopenia of congenital dyskeratosis from Fanconi anaemia. Eur J Pediatr. 1988 Oct;148(1):37-9. doi: 10.1007/BF00441811. PMID: 3197732.
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Eur J Pediatr. 1988 Oct;148(1):37-9. doi: 10.1007/BF00441811.

Clastogen-induced fragility may differentiate pancytopenia of congenital dyskeratosis from Fanconi anaemia.

European journal of pediatrics

A Schneider, U Mayer, E Gebhart, D Harms, J Gromball, U Glöckel, J D Beck

Affiliations

  1. Abteilung für Kinderheilkunde, Universität Erlangen-Nürnberg, Federal Republic of Germany.

PMID: 3197732 DOI: 10.1007/BF00441811

Abstract

A male infant is reported with congenital dyskeratosis and pancytopenia Zinsser-Engman-Cole. The bone marrow pathology showed similarities to Fanconi anaemia. Ophthalmological complications were vitreous haemorrhage, haemorrhagic cataracta complicata and glaucoma. Spontaneous and diepoxybutane-induced chromosomal fragility was within the range of normal cells but was elevated through induction with 4-nitroquinoline-oxide. These findings are contrasted with those of Fanconi anaemia.

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