scholarly journals Allgrove Syndrome in Iranian Patients and Report on a Novel Mutation in AAAS Gene

2018 ◽  
Vol 28 (1) ◽  
Author(s):  
Mahin Hashemipour ◽  
Mehdi Khorrami ◽  
Manijeh Mahdavi ◽  
Maryam Hosseindokht Khujin ◽  
Majid Kheirollahi
Keyword(s):  
Novel Mutation ◽  
Allgrove Syndrome ◽  
Aaas Gene ◽  
Iranian Patients

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

2010 ◽  
Vol 118 (08) ◽  
pp. 530-536 ◽  
Author(s):  
I. Krull ◽  
M. M.-Woelfle ◽  
K. Bärlocher ◽  
K. Koehler ◽  
A. Huebner ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Allgrove Syndrome ◽  
Similar Phenotype ◽  
Aaas Gene

Allgrove syndrome with features of familial dysautonomia: A novel mutation in the AAAS gene

2006 ◽  
Vol 95 (9) ◽  
pp. 1140-1143 ◽  
Author(s):  
Essam Ismail ◽  
Anna Tulliot-Pelet ◽  
Ameer Mohsen ◽  
Qusay Al-Saleh
Keyword(s):  
Novel Mutation ◽  
Familial Dysautonomia ◽  
Allgrove 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

scholarly journals A Case of Allgrove Syndrome with a Novel IVS7 +1 G>A Mutation of The AAAS Gene

2012 ◽  
Vol 21 (1) ◽  
pp. 11-13 ◽  
Author(s):  
Satoru Ikemoto ◽  
Ken Sakurai ◽  
Naruo Kuwashima ◽  
Yoshihiro Saito ◽  
Ichiro Miyata ◽  
...  
Keyword(s):  
Allgrove Syndrome ◽  
Aaas Gene

Triple A (Allgrove) syndrome due to AAAS gene mutation with a rare association of amyotrophy

HORMONES ◽  
2020 ◽  
Author(s):  
Satyam Singh Jayant ◽  
Rahul Gupta ◽  
Kanhaiya Agrawal ◽  
Liza Das ◽  
Pinaki Dutta ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Allgrove Syndrome ◽  
Rare Association ◽  
Aaas Gene Mutation ◽  
Aaas Gene

Triple A or Allgrove Syndrome. A Case Report with Ophthalmic Abnormalities and a Novel Mutation in theAAASGene

2009 ◽  
Vol 30 (1) ◽  
pp. 45-49 ◽  
Author(s):  
Cristina Villanueva-Mendoza ◽  
Oswaldo Martínez-Guzmán ◽  
David Rivera-Parra ◽  
Juan Carlos Zenteno
Keyword(s):  
Case Report ◽  
Novel Mutation ◽  
Allgrove Syndrome

The diagnosis of adrenal insufficiency in a patient with Allgrove syndrome and a novel mutation in the ALADIN gene

Metabolism ◽  
2005 ◽  
Vol 54 (2) ◽  
pp. 200-205 ◽  
Author(s):  
Marzieh Salehi ◽  
Henry Houlden ◽  
Arsalan Sheikh ◽  
Leonid Poretsky
Keyword(s):  
Adrenal Insufficiency ◽  
Novel Mutation ◽  
Allgrove Syndrome

Mutation Spectra of the AAAS Gene in Iranian Families with Allgrove Syndrome

2011 ◽  
Vol 42 (2) ◽  
pp. 163-168 ◽  
Author(s):  
Vahid Reza Yassaee ◽  
Ziba Soltani ◽  
Bahareh Malekafzali Ardakani
Keyword(s):  
Allgrove Syndrome ◽  
Aaas Gene ◽  
Mutation Spectra

Identification of a novel mutation in congenital afibrinogenemia in Iranian patients

2021 ◽  
Vol Publish Ahead of Print ◽  
Author(s):  
Somayeh Takrim Nojehdeh ◽  
Marzieh Mojbafan ◽  
Mahboobeh Masoodifard ◽  
Masoume Amini ◽  
Sirous Zeinali
Keyword(s):  
Novel Mutation ◽  
Congenital Afibrinogenemia ◽  
Iranian Patients
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