%0 Journal Article %1 sharefah_d_a_al_issa_2024_10791233 %A Issa, Sharefah D. A. Al %A Bashammakh, Dina S %A Jurayyan, Nasir AM Al %D 2024 %J World Journal of Biology Pharmacy and Health Sciences %K 1 Diabetes Mellitus type %N 1 %P 229–232 %R 10.30574/wjbphs.2023.16.1.0377 %T Diabetes mellitus type 1(DM-1) in a child with usher syndrome %U https://wjbphs.com/content/diabetes-mellitus-type-1dm-1-child-usher-syndrome %V 16 %X Usher Syndrome is a rare genetic (autosomal recessive) disorder that characterized by partial or total hearing loss caused by defective inner ear and vision loss caused by retinitis pigmentosa which worsens by time. We report on a 9 year-old child who was diagnosed by genetic testing via whole exome sequencing (WES) with Usher Syndrome. At the age of two years and three months, the patient developed type 1 Diabetes Mellitus (DM-1). The aim of this article is to provide a comprehensive review of Usher Syndrome. The postulated association of Usher Syndrome and diabetes mellitus type 1 pathogenesis is also highlighted.

@article{sharefah_d_a_al_issa_2024_10791233, abstract = {Usher Syndrome is a rare genetic (autosomal recessive) disorder that characterized by partial or total hearing loss caused by defective inner ear and vision loss caused by retinitis pigmentosa which worsens by time. We report on a 9 year-old child who was diagnosed by genetic testing via whole exome sequencing (WES) with Usher Syndrome. At the age of two years and three months, the patient developed type 1 Diabetes Mellitus (DM-1). The aim of this article is to provide a comprehensive review of Usher Syndrome. The postulated association of Usher Syndrome and diabetes mellitus type 1 pathogenesis is also highlighted.}, added-at = {2024-03-18T09:05:46.000+0100}, author = {Issa, Sharefah D. A. Al and Bashammakh, Dina S and Jurayyan, Nasir AM Al}, biburl = {https://www.bibsonomy.org/bibtex/2b0bfee4c69cd99b4979a8a505c3efc8f/wjbphsjournal}, doi = {10.30574/wjbphs.2023.16.1.0377}, interhash = {46e15e70684aa2d19a711836784f0259}, intrahash = {b0bfee4c69cd99b4979a8a505c3efc8f}, issn = {2582-5542}, journal = {{World Journal of Biology Pharmacy and Health Sciences}}, keywords = {1 Diabetes Mellitus type}, month = mar, number = 1, pages = {229–232}, timestamp = {2024-03-18T09:05:46.000+0100}, title = {Diabetes mellitus type 1(DM-1) in a child with usher syndrome}, url = {https://wjbphs.com/content/diabetes-mellitus-type-1dm-1-child-usher-syndrome}, volume = 16, year = 2024 }