An Alu-mediated rearrangement causing a 3.2kb deletion and a novel two base pair deletion in AAAS gene as the cause of triple A syndrome
Author:
Publisher
Elsevier BV
Subject
Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism
Reference25 articles.
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3. Mutant WD-repeat protein in triple-A syndrome;Tullio-Pelet;Nat. Genet.,2000
4. Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene;Handschug;Hum. Mol. Genet.,2001
5. New insights into the molecular basis of the triple A syndrome;Huebner;Endocr. Res.,2002
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1. Identification of a novel non-coding deletion in Allan-Herndon-Dudley syndrome by long-read HiFi genome sequencing;2024-04-01
2. Neurophysiological Characteristics of Allgrove (Triple A) Syndrome: Case Report and Literature Review;Child Neurology Open;2021-01
3. Triple-A Syndrome (TAS): An In-Depth Overview on Genetic and Phenotype Heterogeneity;Protein & Peptide Letters;2020-12-02
4. Homozygous deletion of the entire AAAS gene in a triple A syndrome patient;European Journal of Medical Genetics;2019-07
5. Clinical decision making and application of an active rehabilitation program for a person with the neuromuscular symptoms of Allgrove syndrome: a case report;Physiotherapy Theory and Practice;2018-12-03
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