Two Patients with an Identical Novel Mutation in the AAAS Gene and Similar Phenotype of Triple A (Allgrove) Syndrome-Reference-Cited by-同舟云学术

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Two Patients with an Identical Novel Mutation in the AAAS Gene and Similar Phenotype of Triple A (Allgrove) Syndrome

Published:2010-03-03 Issue:08 Volume:118 Page:530-536
ISSN:0947-7349
Container-title:Experimental and Clinical Endocrinology & Diabetes
language:en
Short-container-title:Exp Clin Endocrinol Diabetes

Author:

Krull I.,M.-Woelfle M.,Bärlocher K.,Koehler K.,Huebner A.,Brändle M.

Publisher

Georg Thieme Verlag KG

Subject

Endocrinology,General Medicine,Endocrinology, Diabetes and Metabolism,Internal Medicine

Link

http://www.thieme-connect.de/products/ejournals/pdf/10.1055/s-0030-1247516

Cited by 8 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Nuclear pore complexes — a doorway to neural injury in neurodegeneration;Nature Reviews Neurology;2022-04-29

2. Triple-A Syndrome (TAS): An In-Depth Overview on Genetic and Phenotype Heterogeneity;Protein & Peptide Letters;2020-12-02

3. Neurological Phenotypes Associated with AAAS-Related Disorders: Spastic Ataxia and Complex Spastic Paraplegia;The Cerebellum;2020-03-07

4. Phenotype–genotype spectrum of AAA syndrome from Western India and systematic review of literature;Endocrine Connections;2017-11

5. Genetics of Motility Disorders: Gastroesophageal Reflux, Triple A Syndrome, Hirschsprung Disease, and Chronic Intestinal Pseudo-obstruction;Pediatric Neurogastroenterology;2016-11-27

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