Restrictive dermopathy: report of one case and the metabolic and post-mortem findings
Restrictive dermopathy is a rare and lethal autosomal recessive genodermatosis characterized by tight skin, typical dysmorphic face, generalized arthrogryposis and pulmonary hypoplasia. Infants with restrictive dermopathy have similar findings in skin biopsy, but other abnormalities are unrem...
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| Main Authors: | Ming-Chou Chiang, Shiu-Feng Huang, Chuen Hsueh, Ming-Wei Lai, Jia-Woei Hou |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Hacettepe University Institute of Child Health
2008-10-01
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| Series: | The Turkish Journal of Pediatrics |
| Online Access: | https://turkjpediatr.org/article/view/2475 |
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