Neonatal Presentation of Rhizomelic Chondrodysplasia Punctata: Spot Diagnosis and Myriads of Unmet Needs
Background: Rhizomelic chondrodysplasia punctata (RCDP) is an uncommon inborn error of metabolism related to peroxisome. The inheritance pattern of this problem is autosomal recessive in nature. Five genetic subtypes have been reported which are clinically indistinguishable. Majority of cases have...
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| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Knowledge E
2025-06-01
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| Series: | Dubai Medical Journal |
| Subjects: | |
| Online Access: | https://knepublishing.com/index.php/DMJ/article/view/18997 |
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