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

Novel compound heterozygous mutations in KREMEN1 confirm it as a disease gene for ectodermal dysplasia

2018 ◽  
Vol 179 (3) ◽  
pp. 758-760 ◽  
Author(s):  
N. Intarak ◽  
T. Theerapanon ◽  
A. Srijunbarl ◽  
K. Suphapeetiporn ◽  
T. Porntaveetus ◽  
...  
Keyword(s):  
Disease Gene ◽  
Ectodermal Dysplasia ◽  
Compound Heterozygous ◽  
Compound Heterozygous Mutations
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