A novel GJB6 missense mutation in hidrotic ectodermal dysplasia 2 (Clouston syndrome) broadens its genotypic basis
Br J Dermatol
.
2008 Dec;159(6):1373-6.
doi: 10.1111/j.1365-2133.2008.08796.x.
Epub 2008 Aug 19.
Authors
H N Baris
1
,
A Zlotogorski
,
G Peretz-Amit
,
V Doviner
,
M Shohat
,
H Reznik-Wolf
,
E Pras
Affiliation
1
The Raphael Recanati Genetic Institute, Rabin Medical Center, Beilinson Hospital, Petah Tikva 49100, Israel.
[email protected]
PMID:
18717672
DOI:
10.1111/j.1365-2133.2008.08796.x
No abstract available
Publication types
Case Reports
MeSH terms
Connexins / genetics*
Ectodermal Dysplasia / genetics*
Ectodermal Dysplasia / pathology
Female
Humans
Infant
Male
Mutation, Missense*
Polymerase Chain Reaction
Young Adult
Substances
Connexins