We have described a previously unrecognized chondrodystrophy characterized by short-limbed dwarfism, blue sclera, severe cardiopulmonary problems, and failure of postnatal growth. The first of two siblings thus affected died at age 6 months following attempted correction of an atrial septa1 defect.
β¦ LIBER β¦
Abnormality of type IX collagen in a patient with diastrophic dysplasia
β Scribed by Diab, Mohammad ;Wu, Jiann-Jiu ;Shapiro, Frederic ;Eyre, David
- Publisher
- John Wiley and Sons
- Year
- 1994
- Tongue
- English
- Weight
- 965 KB
- Volume
- 49
- Category
- Article
- ISSN
- 0148-7299
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