Author

Rami Abuhajji

2 papers indexed here

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Open access Sep 2026

Infantile 22q11.2 deletion syndrome with secondary monogenic variants following inconclusive whole exome sequencing: a case report

This case highlights the classic expanded phenotype of 22q11.2DS in infancy and demonstrates the technical limitations of WES in identifying microdeletions, and illustrates how parental consanguinity can introduce overlapping or incidental genetic findings (TTN, NEXN, ANO5) that require careful clinical correlation.

Amir Abadi, Usra I. Ghanem, Bissan Badran et al. · Frontiers in Pediatrics · 0 citations

Case report Aug 2026

Expansion of the Clinical Spectrum of Autosomal Recessive Fatty Acyl-CoA Reductase 1 (FAR1) Deficiency: A Previously Unreported Association With Imperforate Anus-A Case Report.

Peroxisomal fatty acyl-CoA reductase 1 (FAR1) deficiency is a rare single-enzyme peroxisomal disorder caused by biallelic pathogenic variants in FAR1, typically manifesting with severe neurodevelopmental delay, hypotonia, early-onset epilepsy, and congenital cataracts. We report a male infant born to first-cousin paren...

Mostafa Ibraheem Abo Alrob, Fawaz Awad, Ranya Abu Khalaf et al. · American Journal of Medical... · 0 citations