Publications by authors named "Bojan Teov"
Compound Heterozygosity in Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome Type 4.
Pril (Makedon Akad Nauk Umet Odd Med Nauki)
December 2023
Cerebellar ataxia, mental retardation, and disequilibrium syndrome (CAMRQ) is a genetically and clinically heterogeneous disorder with four described subtypes. Autosomal recessive syndrome of cerebellar ataxia, mental retardation, and disequilibrium type 4 (CAMRQ4) is caused by mutations in the gene. We report an 8-year-old boy with choreoathetosis, hypotonia, without the ability to keep his head up and profound mental retardation.
View Article and Find Full Text PDFAlström Syndrome with Early Vision and Hearing Impairement.
Ardiana Beqiri-Jashari Aleksandra Janchevska Irfan Ahmeti Filip Doksimovski Marija Cipanovska Bojan Teov
Pril (Makedon Akad Nauk Umet Odd Med Nauki)
July 2022
Article Synopsis
- Alström syndrome is a genetic disorder caused by mutations in the ALMS1 gene, leading to issues like vision and hearing loss, childhood obesity, and diabetes.
- A 12-year-old boy showed early signs of hearing and vision impairments, obesity (BMI 31.64), and scoliosis, with normal mental development despite these health challenges.
- Genetic testing revealed a specific harmful variant in the ALMS1 gene, confirming his diagnosis, while also distinguishing his condition from similar syndromes due to lack of mental retardation and polydactyly.