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The phocomelia-thrombocytopenia syndrome. A follow-up report

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Summary

Report on the sibling of a child with tetraphocomelia and thrombocytopenia who exhibited brachial phocomelia and extreme platelet deficiency.

Zusammenfassung

Bericht über den Bruder eines Kindes mit Tetraphokomelie und Thrombocytopenie der eine brachiale Phokomelie und eine extreme Verminderung der Blutplättchen aufwies.

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Reference

  1. Pfeiffer, R. A., Maintz, G., Hameke, C.: Tetraphocomelia and neonatal amegakaryocytic thrombocytopenia. Humangenetik 17, 175–178 (1973)

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Pfeiffer, R.A., Haneke, C. The phocomelia-thrombocytopenia syndrome. A follow-up report. Hum Genet 26, 157–158 (1975). https://doi.org/10.1007/BF00278446

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Keywords

  • Internal Medicine
  • Thrombocytopenia
  • Metabolic Disease
  • Platelet Deficiency