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

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 as an autosomal reces...

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Detalles Bibliográficos
Autores principales: Sayed, Jamal, Gamal, Ahmed, Theyab, Abdulrahman, Algahtani, Mohamed, Aldaadi, Banan Bakheet
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10264737/
https://www.ncbi.nlm.nih.gov/pubmed/37323250
http://dx.doi.org/10.1002/ccr3.7504

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10264737/
https://www.ncbi.nlm.nih.gov/pubmed/37323250
http://dx.doi.org/10.1002/ccr3.7504

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