Neonatal rhizomelic chondrodysplasia punctata type 2 caused by a novel homozygous variant in the GNPAT gene
Key Clinical Message Rhizomelic chondrodysplasia punctata (RCDP) is a rare disorder (~1 in 100,000 live births) of faulty plasmalogen biosynthesis and defective peroxisomal metabolism. RCDP type 2 is specifically caused by glyceronephosphate O‐acyltransferase (GNPAT) gene mutations and is inherited...
| Main Authors: | , , , , |
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| 格式: | Article |
| 語言: | English |
| 出版: |
Wiley
2023-06-01
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| 叢編: | Clinical Case Reports |
| 主題: | |
| 在線閱讀: | https://doi.org/10.1002/ccr3.7504 |