Autosomal-dominant cutis laxa resulting from an intronic mutation in ELN
Exp Dermatol
.
2015 Nov;24(11):885-7.
doi: 10.1111/exd.12784.
Epub 2015 Aug 21.
Authors
Dan Vodo
1
2
,
Ofer Sarig
2
,
Alon Peled
1
2
,
Moshe Frydman
2
3
,
Shoshi Greenberger
4
,
Eli Sprecher
1
2
Affiliations
1
Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
2
Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
3
The Danek Gertner Institute of Human Genetics, Chaim Sheba Medical Center, Tel Hashomer, Israel.
4
Department of Dermatology, Chaim Sheba Medical Center, Tel Hashomer, Israel.
PMID:
26121527
DOI:
10.1111/exd.12784
No abstract available
Keywords:
autosomal dominant inheritance; cryptic splice site; cutis laxa; elastin.
Publication types
Case Reports
Letter
MeSH terms
Child, Preschool
Cutis Laxa / genetics*
DNA Mutational Analysis
Elastin / genetics*
Genes, Dominant
Humans
Introns
Male
Substances
Elastin