An Endocrinological Perspective on 22q11.2 Deletion Syndrome: A Single-center Experience
Author:
Publisher
Galenos Yayinevi
Subject
Endocrinology,Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology and Child Health
Reference20 articles.
1. 2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome);McDonald-McGinn DM;Medicine (Baltimore),2011
2. Korpaisarn S, Trachoo O, Sriphrapradang C. Chromosome 22q11.2 deletion syndrome presenting as adult onset hypoparathyroidism: clues to diagnosis from dysmorphic facial features. Case Rep Endocrinol 2013;2013:802793. Epub 2013 Apr 30
3. Butts SC. The facial phenotype of the velo-cardio-facial syndrome. Int J Pediatr Otorhinolaryngol 2009;73:343-350. Epub 2008 Dec 4
4. Levy-Shraga Y, Gothelf D, Goichberg Z, Katz U, Somech R, Pinhas-Hamiel O, Modan-Moses D. Growth characteristics and endocrine abnormalities in 22q11.2 deletion syndrome. Am J Med Genet A 2017;173:1301-1308. Epub 2017 Feb 16
5. Choi JH, Shin YL, Kim GH, Seo EJ, Kim Y, Park IS, Yoo HW. Endocrine manifestations of chromosome 22q11.2 microdeletion syndrome. Horm Res 2005;63:294-299. Epub 2005 Jul 1
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