Two novel truncating variants of the AAAS gene causative of the triple A syndrome
Author:
Funder
Istituto Auxologico Italiano
Publisher
Springer Science and Business Media LLC
Subject
Endocrinology,Endocrinology, Diabetes and Metabolism
Link
http://link.springer.com/content/pdf/10.1007/s40618-020-01180-1.pdf
Reference33 articles.
1. Cho AR, Yang KJ, Bae Y et al (2009) Tissue-specific expression and subcellular localization of ALADIN, the absence of which causes human triple A syndrome. Exp Mol Med 41:381–386. https://doi.org/10.3858/emm.2009.41.6.043
2. Allgrove J, Clayden GS, Grant DB, Macaulay JC (1978) Familial glucocorticoid deficiency with achalasia of the cardia and deficient tear production. Lancet (London, England) 1:1284–1286
3. Huebner A, Elias LL, Clark AJ (1999) ACTH resistance syndromes. J Pediatr Endocrinol Metab 12(Suppl 1):277–293
4. Tullio-Pelet A, Salomon R, Hadj-Rabia S et al (2000) Mutant WD-repeat protein in triple-A syndrome. Nat Genet 26:332–335. https://doi.org/10.1038/81642
5. Weber A, Wienker TF, Jung M et al (1996) Linkage of the gene for the triple A syndrome to chromosome 12q13 near the type II keratin gene cluster. Hum Mol Genet 5:2061–2066. https://doi.org/10.1093/hmg/5.12.2061
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