Publications by authors named "Abdul Halim Kassim"
HK1 deficient Haemolytic Anaemia in association with a Neurological Phenotype & co-existing Meckel-Gruber due to CEP290 in a Romani family.
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- A family with an X-linked syndrome has affected 13 male patients over three generations, presenting severe symptoms like growth retardation, hydrocephalus, and congenital defects, often leading to fatal outcomes in infancy due to infections.
- Genome sequencing revealed a unique variant in the OTUD5 gene, which was found in 10 individuals, linking it to the disease.
- The study identifies the OTUD5 gene as a key factor in this syndrome, providing a definitive diagnosis for the affected family and enhancing understanding of related neurodevelopmental disorders.