BILATERAL APLASIA OF THE TIBIA, POLYDACTYLY AND ABSENT THUMB IN FATHER AND DAUGHTER
| Autor: | J. M. McIntyre, F. C. Fraser, H. Pashayan, J. S. Dunbar |
|---|---|
| Rok vydání: | 1971 |
| Předmět: |
musculoskeletal diseases
Hand deformity medicine.medical_specialty Daughter Tibial hypoplasia Polydactyly business.industry media_common.quotation_subject Mutant gene Aplasia Anatomy medicine.disease Surgery Absent thumb body regions medicine Orthopedics and Sports Medicine Tibia business media_common |
| Zdroj: | The Journal of Bone and Joint Surgery. British volume. :495-499 |
| ISSN: | 2044-5377 0301-620X |
| DOI: | 10.1302/0301-620x.53b3.495 |
| Popis: | 1. A family is reported in which tibial aplasia with polydactyly of hands and feet and absent thumbs occurred in a father and daughter. 2. The evidence suggests the existence of an autosomal dominant mutant gene that causes absent thumbs and manual polydactyly, with or without varying degrees of tibial hypoplasia and pedal polydactyly. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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