A Novel PGAP3 Gene Mutation-Related Megalocornea Can Be Misdiagnosed as Primary Congenital Glaucoma

Hyperphosphatasia with mental retardation syndrome 4 (HPMRS4) is a rare autosomal recessive disorder caused by glycosylphosphatidylinositol (GPI) deficiency. GPI deficiency results from a mutation in one of six known genes. Mutation in post-GPI attachment to protein phospholipase 3 gene (PGAP3) is l...

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Detalles Bibliográficos
Autores principales: Alhaidari, Abdulmajeed I, Albakri, Amani S, Alhumaidi, Suzan S
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9585391/
https://www.ncbi.nlm.nih.gov/pubmed/36304370
http://dx.doi.org/10.7759/cureus.29387

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