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An Atypical form Rhizomelic Chondrodysplasia Punctata in a Newborn
Rhizomelic Chondrodysplasia punctata (RCDP) is an autosomal recessive metabolic disorder affecting mainly peroxisomal function. We describe a case of RCDP in a 12 days old newborn based on the clinical and radiological ground without any major systemic structural or functional abnormalities.
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| Main Authors: | , , , |
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| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Medknow Publications & Media Pvt Ltd
2013
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3775134/ https://ncbi.nlm.nih.gov/pubmed/24049758 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/2249-4847.116415 |
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