scholarly journals A Novel V185DfsX4 Mutation of the AAAS Gene in a 2-year-old Boy with Triple A Syndrome

2009 ◽  
Vol 18 (2) ◽  
pp. 73-75 ◽  
Author(s):  
Tony Huynh ◽  
Ivan McGown ◽  
Ohn Nyunt ◽  
David Cowley ◽  
Mark Harris ◽  
...  
Keyword(s):  
Triple A Syndrome ◽  
Aaas Gene

scholarly journals Triple A syndrome: two siblings with a novel mutation in the AAAS gene

HORMONES ◽  
2019 ◽  
Vol 18 (1) ◽  
pp. 109-112 ◽  
Author(s):  
Athanasia Bouliari ◽  
Xuexin Lu ◽  
Rebecca W. Persky ◽  
Constantine A. Stratakis
Keyword(s):  
Novel Mutation ◽  
Triple A Syndrome ◽  
Aaas Gene

Progressive bulbospinal amyotrophy in Triple A syndrome with AAAS gene mutation

Neurology ◽  
2002 ◽  
Vol 58 (6) ◽  
pp. 962-965 ◽  
Author(s):  
C. Goizet ◽  
B. Catargi ◽  
F. Tison ◽  
A. Tullio-Pelet ◽  
S. Hadj-Rabia ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Triple A Syndrome ◽  
Aaas Gene Mutation ◽  
Aaas Gene

scholarly journals Analysis of the AAAS Gene in a Japanese Patient with Triple A Syndrome.

2002 ◽  
Vol 49 (1) ◽  
pp. 49-53 ◽  
Author(s):  
NORIYUKI KATSUMATA ◽  
HIROYUKI HIROSE ◽  
MASAYO KAGAMI ◽  
TOSHIAKI TANAKA
Keyword(s):  
Japanese Patient ◽  
Triple A Syndrome ◽  
Aaas Gene

scholarly journals Spectral Domain – Optical Coherence Tomography findings in Triple-A Syndrome – A case series from Pakistan

2020 ◽  
Vol 37 (1) ◽  
Author(s):  
Javeria Nasir ◽  
Anum Javed ◽  
Muhammad Owais Arshad ◽  
Muhammad Hanif Chatni
Keyword(s):  
Optical Coherence Tomography ◽  
Case Series ◽  
Spectral Domain ◽  
Variable Degree ◽  
Optical Coherence ◽  
Triple A Syndrome ◽  
Multiple Systems ◽  
Creative Commons ◽  
Ophthalmic Manifestations ◽  
Aaas Gene

Triple A Syndrome is an autosomal recessive entity involving multiple systems usually characterized by adrenal insufficiency, alacrimia and achalasia. The disease features include variable degrees of neurological and neuro-ophthalmic manifestations. Protein ALADIN encoded by the AAAS gene is found to be defective in Triple A Syndrome. Here we discuss a case series of five patients diagnosed as Triple A Syndrome. Clinically there was variable degree of optic atrophy in all the cases, which was further confirmed with spectral domain Optical Coherence Tomography The aim of this study was to publish the OCT based ONFL graphs of these unique cases, so that being an ophthalmologist we can take a multidisciplinary approach and decisions accordingly. doi: https://doi.org/10.12669/pjms.37.1.3310 How to cite this:Nasir J, Javed A, Arshad O, Chatni MH. Spectral Domain – Optical Coherence Tomography Findings in Triple-A Syndrome – A case series from Pakistan. Pak J Med Sci. 2021;37(1):267-271. doi: https://doi.org/10.12669/pjms.37.1.3310 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Triple-A Syndrome - The First Chinese Patient with Novel Mutations in the AAAS Gene

2006 ◽  
Vol 19 (5) ◽  
Author(s):  
Y.Y. Lam ◽  
I.F.M. Lo ◽  
C.C. Shek ◽  
T.M.F. Tong ◽  
D.K.K. Ng ◽  
...  
Keyword(s):  
Chinese Patient ◽  
Triple A Syndrome ◽  
Novel Mutations ◽  
Aaas Gene

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

2019 ◽  
Vol 62 (7) ◽  
pp. 103665
Author(s):  
Katrin Koehler ◽  
Karl Hackmann ◽  
Dana Landgraf ◽  
Tina Schubert ◽  
Marjan Shakiba ◽  
...  
Keyword(s):  
Homozygous Deletion ◽  
Syndrome Patient ◽  
Triple A Syndrome ◽  
Aaas Gene

scholarly journals Two novel truncating variants of the AAAS gene causative of the triple A syndrome

2020 ◽  
Vol 43 (7) ◽  
pp. 973-982
Author(s):  
V. Vezzoli ◽  
P. Duminuco ◽  
G. Pogliaghi ◽  
M. Saccone ◽  
B. Cangiano ◽  
...  
Keyword(s):  
Triple A Syndrome ◽  
Aaas Gene

Myoclonus and generalized digestive dysmotility in triple A syndrome with AAAS gene mutation

2003 ◽  
Vol 19 (3) ◽  
pp. 344-346 ◽  
Author(s):  
Anne Roubergue ◽  
Emmanuelle Apartis ◽  
Marie Vidailhet ◽  
Cyril Mignot ◽  
Anna Tullio-Pelet ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Triple A Syndrome ◽  
Aaas Gene Mutation ◽  
Aaas Gene

Three siblings with triple A syndrome with a novel frameshift mutation in the AAAS gene and a review of 17 independent patients with the frequent p.Ser263Pro mutation

2008 ◽  
Vol 167 (9) ◽  
pp. 1049-1055 ◽  
Author(s):  
Tatjana Milenković ◽  
Katrin Koehler ◽  
Manuela Krumbholz ◽  
Sladjana Živanović ◽  
Dragan Zdravković ◽  
...  
Keyword(s):  
Frameshift Mutation ◽  
Triple A Syndrome ◽  
Aaas Gene

scholarly journals Triple A syndrome: two novel mutations in the AAAS gene

2009 ◽  
Vol 2009 (apr07 1) ◽  
pp. bcr0920080984-bcr0920080984 ◽  
Author(s):  
S. Thummler ◽  
A. Huebner ◽  
E. Baechler-Sadoul
Keyword(s):  
Triple A Syndrome ◽  
Novel Mutations ◽  
Aaas Gene
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