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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Bibliographic Details
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
Series:The Turkish Journal of Pediatrics
Online Access:https://turkjpediatr.org/article/view/2475
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