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Genetic characterization of Schuurs-Hoeijmakers syndrome in a moroccan individual with heterozygote PACS1 mutation.

Molecular biology reports - 1 Nov 2023

Abbassi Meriame, Bourmtane Abdelhamid, Sayel Hanane, El Mouhi Hinde, Jalte Meryem, Elasri Yasser Ali, Askander Omar, El Fahime Elmostafa, Bouguenouch Laila

Abstract excerpt

BACKGROUND: Schuurs-Hoeijmakers syndrome, an autosomal dominant neurodevelopmental genetic disorder, is a rare cause of intellectual disability (ID) affecting approximately 1 to 3% of all over the world. Only 87 cases have been recorded to date, and oddly enough, the majority of them share the same mutation (c.607 C > T; p.R203W). CASE PRESENTATION: This study presents the first reported case in Morocco of a...

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PMID: 37747683
DOI: 10.1007/s11033-023-08803-9

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Genetic characterization of Schuurs-Hoeijmakers syndrome in a moroccan individual with heterozygote PACS1 mutation.PMID 37747683Read ↗

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