Bilateral Glaucoma as Possible Additional Feature for PGAP3-Associated Hyperphosphatasia

Hyperphosphatasia with mental disorder (HPMRS) is a rare autosomal recessive disease caused by gene mutations in enzymes involved in the synthesis and remodeling of lipids. Seven-month-old boy diagnosed with bilateral glaucoma had a cleft palate, facial dysmorphism, hypertelorism, a broad nasal brid...

Ausführliche Beschreibung

Bibliographische Detailangaben

Veröffentlicht in:	Case reports in genetics 2024-03, Vol.2024, p.3561555-3
Hauptverfasser:	Obaid, Osama, Batawi, Reem, Alqurashi, Heba, Ewis, Thana, Obaid, Ahmad A.
Format:	Artikel
Sprache:	eng
Schlagworte:	Enzymes Gene mutations Genetic aspects Genetic disorders Glaucoma in children Health aspects Mental illness
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!