Novel Mutation in the AAAS Gene in a Severely Affected Triple-A Syndrome Patient

2015 ◽  
Vol 04 (03) ◽  
Author(s):  
Maria L Hansen ◽  
Anja L Frederiksen ◽  
Claus B Juhl
Keyword(s):  
Novel Mutation ◽  
Syndrome Patient ◽  
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

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

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 Triple-A syndrome with prominent ophthalmic features and a novel mutation in the AAASgene: a case report

2004 ◽  
Vol 4 (1) ◽  
Author(s):  
Brian P Brooks ◽  
Robert Kleta ◽  
Rafael C Caruso ◽  
Caroline Stuart ◽  
Jonathan Ludlow ◽  
...  
Keyword(s):  
Case Report ◽  
Novel Mutation ◽  
Triple A Syndrome

Prominent dermal Langerhans cells in an Omenn syndrome patient with a novel mutation in the IL 2 RG gene

2019 ◽  
Vol 46 (11) ◽  
pp. 1019-1023
Author(s):  
Atsuko Ibusuki ◽  
Takuro Nishikawa ◽  
Tsubasa Hiraki ◽  
Tsubasa Okano ◽  
Kohsuke Imai ◽  
...  
Keyword(s):  
Langerhans Cells ◽  
Novel Mutation ◽  
Omenn Syndrome ◽  
Syndrome Patient

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 Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2gene

2014 ◽  
Vol 15 (1) ◽  
Author(s):  
Gerarda Cappuccio ◽  
Alessandro Rossi ◽  
Paolo Fontana ◽  
Emma Acampora ◽  
Valeria Avolio ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Kabuki Syndrome ◽  
Syndrome Patient
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