Allgrove Syndrome: A Report of New Pathological Variants in the AAAS Gene
Author:
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
Ophthalmology
Reference10 articles.
1. Familial glucocorticoid deficiency with achalasia of the cardia and deficient tear production;Allgrove;Lancet.,1978
2. Phenotypic heterogeneity in AAAS gene mutation;Barat;Acta Paediatr.,2004
3. The “4A” syndrome: adrenocortical insufficiency associated with achalasia, alacrima, autonomic and other neurological abnormalities;Gazarian;Europ J Pediat.,1995
4. Linkage of the gene for the triple A syndrome to chromosome 12q13 near the type II keratin gene cluster;Weber;Hum Mol Genet.,1996
5. “Crying without tears” as an early diagnostic sign-post of triple A (Allgrove) syndrome: two case reports;Tibussek;BMC Pediatr.,2018
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