We describe a family with two marriages of first cousins and a total of five children with opsismodysplasia. The diagnosis was based on clinical, radiological, and immunhistochemical findings. Helpful to the diagnosis was the testing with type I collagen antibodies, showing abnormally high levels in
Additional case of opsismodysplasia supporting autosomal recessive inheritance
β Scribed by Beemer, Frits A. ;Kozlowski, Kazimierz S.
- Publisher
- John Wiley and Sons
- Year
- 1994
- Tongue
- English
- Weight
- 316 KB
- Volume
- 49
- Category
- Article
- ISSN
- 0148-7299
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