A Novel Variant in the AGPS Gene Causes the Rare Rhizomelic Chondrodysplasia Punctata Type 3: A Case Report

Rhizomelic chondrodysplasia punctata (RCDP) is a devastating medical condition for patients and their families. It is a rare peroxisomal autosomal recessive disorder. It was recognized clinically with skeletal abnormalities and intellectual disabilities mainly due to plasmalogen deficiency. Here, we...

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Detalles Bibliográficos
Autores principales: Shawli, Aiman M, Nazer, Abdulaziz T, Khayyat, Yasir, Alqurashi, Mohammed G, Hakami, Fahad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8765576/
https://www.ncbi.nlm.nih.gov/pubmed/35070570
http://dx.doi.org/10.7759/cureus.20543

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8765576/
https://www.ncbi.nlm.nih.gov/pubmed/35070570
http://dx.doi.org/10.7759/cureus.20543

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