Neonatal rhizomelic chondrodysplasia punctata type 2 caused by a novel homozygous variant in the GNPAT gene

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...

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Bibliographic Details
Main Authors: Jamal Sayed, Ahmed Gamal, Abdulrahman Theyab, Mohamed Algahtani, Banan Bakheet Aldaadi
Format: Article
Language:English
Published: Wiley 2023-06-01
Series:Clinical Case Reports
Subjects:
genetic testing
GNPAT gene
mutation
neonatal RCDP
RCDP
Online Access:https://doi.org/10.1002/ccr3.7504

Internet

https://doi.org/10.1002/ccr3.7504

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