Homozygous deletion of the entire AAAS gene in a triple A syndrome patient-Reference-Cited by-同舟云学术

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Homozygous deletion of the entire AAAS gene in a triple A syndrome patient

Published:2019-07 Issue:7 Volume:62 Page:103665
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Koehler Katrin,Hackmann Karl,Landgraf Dana,Schubert Tina,Shakiba Marjan,Kariminejad Ariana,Huebner Angela

Funder

Deutsche Forschungsgemeinschaft (DFG)

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference25 articles.

1. Familial glucocorticoid deficiency with achalasia of the cardia and deficient tear production;Allgrove;Lancet,1978

2. Triple A syndrome with a novel indel mutation in the AAAS gene and delayed puberty;Bustanji;J. Pediatr. Endocrinol. Metab.,2015

3. Tissue-specific expression and subcellular localization of ALADIN, the absence of which causes human triple A syndrome;Cho;Exp. Mol. Med.,2009

4. Proteomic analysis of the mammalian nuclear pore complex;Cronshaw;J. Cell Biol.,2002

5. The nuclear pore complex protein ALADIN is mislocalized in triple A syndrome;Cronshaw;Proc. Natl. Acad. Sci. U. S. A.,2003

Cited by 3 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. Fertility and sexual activity in patients with Triple A syndrome;Frontiers in Endocrinology;2024-03-13

2. Growth alterations in rare forms of primary adrenal insufficiency: a neglected issue in paediatric endocrinology;Endocrine;2022-10-30

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

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