research Writer’s Cramp Presentation of Woodhouse–Sakati Syndrome – “Out of the Woods”
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5 / 96 results research C2orf37 mutational spectrum in Woodhouse–Sakati syndrome patients
This study identified four novel mutations in the C2orf37 gene among Woodhouse–Sakati syndrome patients, doubling known mutations, and found no significant link between isolated symptoms like deafness and dystonia and these mutations.
research Thallium poisoning: emphasis on early diagnosis and response to haemodialysis
In this report, it was noted that severe paresthesia, ophthalmoplegia, cerebellar and extrapyramidal signs, and alopecia can strongly indicate thallium poisoning, and haemodialysis may be beneficial even in the third week after poisoning.
research Case Report: A Chinese Family of Woodhouse-Sakati Syndrome With Diabetes Mellitus, With a Novel Biallelic Deletion Mutation of the DCAF17 Gene
In this study, a novel DCAF17 gene mutation was identified in a Chinese family, suggesting a potential role in pancreatic β cell dysfunction and diabetes development in Woodhouse-Sakati syndrome.
research Coats' Plus: A Progressive Familial Syndrome of Bilateral Coats' Disease, Characteristic Cerebral Calcification, Leukoencephalopathy, Slow Pre- and Post-Natal Linear Growth and Defects of Bone Marrow and Integument
This article presents an update on a family with Coats' plus disorder, documenting additional symptoms and two new similar cases, and reviews literature suggesting a link to dyskeratosis congenita for potential molecular insights.
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