Genetic heterogeneity in the Freeman-Sheldon syndrome: two adults with probable autosomal recessive inheritance
| Autor: | A R Chrispin, J S Fitzsimmons, V Zaldua |
|---|---|
| Rok vydání: | 1984 |
| Předmět: |
Adult
Male genetic structures Genes Recessive Biology Compound heterozygosity Recessive inheritance Genetics medicine Humans Freeman–Sheldon syndrome Genetics (clinical) X-linked recessive inheritance Arthrogryposis Genetic carrier Autosomal recessive inheritance Genetic heterogeneity Syndrome Articles medicine.disease eye diseases Pedigree Radiography Female sense organs medicine.symptom human activities |
| Zdroj: | Journal of Medical Genetics. 21:364-368 |
| ISSN: | 1468-6244 |
| DOI: | 10.1136/jmg.21.5.364 |
| Popis: | We report two sibs with the clinical features of the Freeman-Sheldon syndrome. T parents were unaffected and consanguineous, suggesting recessive inheritance. |
| Databáze: | OpenAIRE |
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