Identification of a novel frameshift mutation in the EDAR gene causing autosomal dominant hypohidrotic ectodermal dysplasia

2014 ◽  
Vol 29 (5) ◽  
pp. 1032-1034 ◽  
Author(s):  
M. Callea ◽  
C.E. Willoughby ◽  
P. Nieminen ◽  
M. Di Stazio ◽  
E. Bellacchio ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Frameshift Mutation ◽  
Ectodermal Dysplasia ◽  
Hypohidrotic Ectodermal Dysplasia ◽  
Edar Gene

The novel EDAR p.L397H missense mutation causes autosomal dominant hypohidrotic ectodermal dysplasia

2016 ◽  
Vol 31 (1) ◽  
pp. e17-e20 ◽  
Author(s):  
A.K. Chaudhary ◽  
R. Mohapatra ◽  
H.A. Nagarajaram ◽  
P. Ranganath ◽  
A. Dalal ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Autosomal Dominant ◽  
Ectodermal Dysplasia ◽  
The Novel ◽  
Hypohidrotic Ectodermal Dysplasia

scholarly journals A Rare Case of Hypohidrotic Ectodermal Dysplasia Caused by Compound Heterozygous Mutations in the EDAR Gene

2004 ◽  
Vol 123 (4) ◽  
pp. 649-655 ◽  
Author(s):  
Yutaka Shimomura ◽  
Nobuyuki Sato ◽  
Akinori Miyashita ◽  
Tsuyoshi Hashimoto ◽  
Masaaki Ito ◽  
...  
Keyword(s):  
Rare Case ◽  
Ectodermal Dysplasia ◽  
Compound Heterozygous ◽  
Hypohidrotic Ectodermal Dysplasia ◽  
Compound Heterozygous Mutations ◽  
Edar Gene

scholarly journals A novel frameshift mutation in the EDA gene in an Iranian patient affected by X-linked hypohidrotic ectodermal dysplasia

2019 ◽  
Vol 24 (1) ◽  
Author(s):  
Marzieh Rahbaran ◽  
Maryam Hassani Doabsari ◽  
Simindokht Salavitabar ◽  
Neda Mokhberian ◽  
Ziba Morovvati ◽  
...  
Keyword(s):  
Frameshift Mutation ◽  
Ectodermal Dysplasia ◽  
Hypohidrotic Ectodermal Dysplasia ◽  
Iranian Patient ◽  
Eda Gene

A Frameshift Mutation of the ED1 Gene in Sibling Cases with X-Linked Hypohidrotic Ectodermal Dysplasia

Dermatology ◽  
2003 ◽  
Vol 207 (2) ◽  
pp. 178-181 ◽  
Author(s):  
Akiko Nishibu ◽  
Takaki Hashiguchi ◽  
Shinichi Yotsumoto ◽  
Masafumi Takahashi ◽  
Koichiro Nakamura ◽  
...  
Keyword(s):  
Frameshift Mutation ◽  
Ectodermal Dysplasia ◽  
Hypohidrotic Ectodermal Dysplasia ◽  
Sibling Cases ◽  
I Gene

scholarly journals EDAR mutation in autosomal dominant hypohidrotic ectodermal dysplasia in two Swedish families

2006 ◽  
Vol 7 (1) ◽  
Author(s):  
Lisbet K Lind ◽  
Christina Stecksén-Blicks ◽  
Kristina Lejon ◽  
Marcus Schmitt-Egenolf
Keyword(s):  
Autosomal Dominant ◽  
Ectodermal Dysplasia ◽  
Hypohidrotic Ectodermal Dysplasia
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