Seizures as the first manifestation of chromosome 22q11.2 deletion syndrome in a 40-year old man: a case report
Author:
Publisher
Springer Science and Business Media LLC
Subject
General Medicine
Link
http://link.springer.com/content/pdf/10.1186/1752-1947-1-167.pdf
Reference13 articles.
1. Hiéronimus S, Bec-Roche M, Pedeutour F, Lambert JC, Wagner-Malher K, Mas JC, Sadoul JL, Fénichel P: The spectrum of parathyroid gland dysfunction associated with the microdeletion 22q11. European Journal of Endocrinology. 2006, 155: 47-52. 10.1530/eje.1.02180.
2. Al-Jenaidi F, Makitie O, Grunebaum E, Sochett E: Parathyroid gland dysfunction in 22q11.2 deletion syndrome. Horm Res. 2007, 67: 117-122. 10.1159/000096421.
3. Maalouf N, Sakhaee K, Odvina C: A case of chromosome 22q11 deletion syndrome diagnosed in a 32-year-old man with hypoparathyroidism. J Clin Endocrinol Metab. 2004, 89: 4817-4820. 10.1210/jc.2004-0442.
4. Robin N, Shprintzen R: Defining the clinical spectrum of deletion 22q11.2. J Pediatr. 2005, 147: 90-96. 10.1016/j.jpeds.2005.03.007.
5. Taylor SC, Morris G, Wilson D, Davies SJ, Gregory JW: Hypoparathyroidism and 22q11 deletion syndrome. Arch Dis Child. 2003, 88: 520-522. 10.1136/adc.88.6.520.
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1. Untargeted metabolomic, and proteomic analysis identifies metabolic biomarkers and pathway alterations in individuals with 22q11.2 deletion syndrome;Metabolomics;2024-02-28
2. Hypoparathyroidism and late-onset hypogonadism in an adult male with familial 22q11.2 deletion syndrome: a case report with 3-year follow-up and review of the literature;BMC Endocrine Disorders;2022-11-12
3. Delayed Diagnosis of Chromosome 22q11.2 Deletion Syndrome Due to Late-Onset Generalized Epilepsy;Journal of Clinical Neurology;2020
4. Hypocalcaemia in an adult: the importance of not overlooking the cause;BMJ Case Reports;2018-04-05
5. An Adult Case of Chromosome 22q11.2 Deletion Syndrome Associated with a High-positioned Right Aortic Arch;Internal Medicine;2017
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