scholarly journals Leprechaunism (Donohue syndrome): A case bearing novel compound heterozygous mutations in the insulin receptor gene

2013 ◽  
Vol 60 (1) ◽  
pp. 107-112 ◽  
Author(s):  
Yuki Kawashima ◽  
Rei Nishimura ◽  
Akari Utsunomiya ◽  
Reiko Kagawa ◽  
Hiroaki Funata ◽  
...  
Keyword(s):  
Insulin Receptor ◽  
Receptor Gene ◽  
Compound Heterozygous ◽  
Insulin Receptor Gene ◽  
Donohue Syndrome ◽  
Compound Heterozygous Mutations

Arg924X homozygous mutation in insulin receptor gene in a Tunisian patient with Donohue syndrome

2016 ◽  
Vol 29 (6) ◽  
Author(s):  
Ons Azzabi ◽  
Houweyda Jilani ◽  
Imen Rejeb ◽  
Nadia Siala ◽  
Yasmina Elaribi ◽  
...  
Keyword(s):  
Insulin Receptor ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disease ◽  
Receptor Gene ◽  
Homozygous Mutation ◽  
Insulin Receptor Gene ◽  
Tunisian Patient ◽  
Donohue Syndrome

AbstractDonohue syndrome (DS) is a rare and lethal autosomal recessive disease caused by mutations in the insulin receptor (

scholarly journals A case of Donohue syndrome “Leprechaunism” with a novel mutation in the insulin receptor gene

2018 ◽  
Vol 52 (4) ◽  
pp. 226-230 ◽  
Author(s):  
Birgul Kirel ◽  
Ozkan Bozdag ◽  
Pelin Kosger ◽  
Sultan Durmus Aydogdu ◽  
Eylem Alincak ◽  
...  
Keyword(s):  
Insulin Receptor ◽  
Novel Mutation ◽  
Receptor Gene ◽  
Insulin Receptor Gene ◽  
Donohue Syndrome

Methionine for valine substitution in exon 17 of the insulin receptor gene in a pedigree with familial NIDDM

Diabetes ◽  
1993 ◽  
Vol 42 (3) ◽  
pp. 429-434 ◽  
Author(s):  
S. C. Elbein ◽  
L. K. Sorensen ◽  
M. C. Schumacher
Keyword(s):  
Insulin Receptor ◽  
Receptor Gene ◽  
Insulin Receptor Gene

Detection of mutations in insulin-receptor gene in NIDDM patients by analysis of single-stranded conformation polymorphisms

Diabetes ◽  
1991 ◽  
Vol 40 (6) ◽  
pp. 777-782 ◽  
Author(s):  
S. O'Rahilly ◽  
W. H. Choi ◽  
P. Patel ◽  
R. C. Turner ◽  
J. S. Flier ◽  
...  
Keyword(s):  
Insulin Receptor ◽  
Receptor Gene ◽  
Insulin Receptor Gene ◽  
Detection Of Mutations ◽  
Niddm Patients
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