Molecular genetic testing of congenital adrenal hyperplasia due to 21-hydroxylase deficiency should include CAH-X chimeras
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://www.nature.com/articles/s41431-021-00870-5.pdf
Reference10 articles.
1. Baumgartner-Parzer S, Witsch-Baumgartner M, Hoeppner W. EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency. Eur J Hum Genet. 2020;28:1341–67.
2. Merke DP, Auchus RJ. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. N Engl J Med. 2020;383:1248–61.
3. Burch GH, Gong Y, Liu W, Dettman RW, Curry CJ, Smith L, et al. Tenascin-X deficiency is associated with Ehlers-Danlos syndrome. Nat Genet. 1997;17:104–8.
4. Merke DP, Chen W, Morissette R, Xu Z, Van Ryzin C, Sachdev V, et al. Tenascin-X haploinsufficiency associated with Ehlers-Danlos syndrome in patients with congenital adrenal hyperplasia. J Clin Endocrinol Metab. 2013;98:E379–87.
5. Morissette R, Chen W, Perritt AF, Dreiling JL, Arai AE, Sachdev V, et al. Broadening the spectrum of Ehlers Danlos syndrome in patients with congenital adrenal hyperplasia. J Clin Endocrinol Metab. 2015;100:E1143–52.
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