الباحثون

Rachid Abilkassem

المنشورات 2

مقال بحثي وصول مفتوح

Novel ANKRD11 Mutation in KBG Syndrome: A diagnostic triad of hearing loss, radiological macrodontia and artificial intelligence-assisted facial phenotyping

Azzeddine Laaraje, Khadija Belcadi Abassi, Mouna Lemaamer وآخرون · مجلة جامعة السلطان قابوس الطبية · 2026 · 10.18295/2075-0528.2963

KBG syndrome is a rare autosomal dominant disorder characterised by developmental delay, characteristic facial features, macrodontia and skeletal anomalies, caused by mutations in the ANKRD11 gene. We report a 5.5-year-old Moroccan boy who presented in 2022 to a tertiary military teaching hospital in Rabat, Morocco, wi …

مقال بحثي وصول مفتوح

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay with Early-Onset Epilepsy and Novel Clinical Features: A rare entity from Morocco in the Middle East and North Africa region

Azzeddine Laaraje, Basma Alaoui, Abdelilah Radi وآخرون · مجلة جامعة السلطان قابوس الطبية · 2025 · 10.18295/2075-0528.2906

We report a novel presentation of autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) in a 9-year-old Moroccan male patient born to consanguineous parents, expanding the known clinical spectrum of the disease. The patient presented to a tertiary care hospital in Rabat, Morocco, in 2023. This case present …

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