| Autor: |
Spranger J, Gilbert EF, Arya S, Hoganson GM, Opitz JM |
| Jazyk: |
angličtina |
| Zdroj: |
American journal of medical genetics [Am J Med Genet] 1984 Nov; Vol. 19 (3), pp. 487-99. |
| DOI: |
10.1002/ajmg.1320190310 |
| Abstrakt: |
On the basis of three affected sibs and one isolated case from the literature geleophysic dysplasia is defined as an acrofacial dysplasia with a peculiar, good-natured facial appearance, short hands and feet due to short, plump tubular bones, small stature, and progressive valvular cardiac disease. It seems to be a hereditary disorder of glycoprotein metabolism with autosomal recessive transmission. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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