3 citations
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April 2017 in “Medicine” This case report describes a rare instance of pediatric idiopathic hypoparathyroidism in an 11-year-old Saudi boy, characterized by extensive cranial calcifications beyond the basal ganglia, with no other neurological abnormalities.
9 citations
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August 2002 in “British journal of ophthalmology” This case report describes a young man diagnosed with encephalocraniocutaneous lipomatosis who had unique bilateral optic disc colobomas, a previously unreported association with this syndrome.
336 citations
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August 2015 in “European Journal of Epidemiology” This article reviews the design and objectives of the Rotterdam Study, as well as summarizes major findings, without reporting new results.
80 citations
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March 2004 in “Neuropediatrics” 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.
May 2020 in “International Journal of Dermatology and Venereology” This article discusses the characteristics, clinical presentation, and diagnosis of calcified epidermal cysts but reports no new clinical results.