Skin fragility, renal malformation and interstitial lung disease due to compound heterozygous ITGA3 mutations
J Dtsch Dermatol Ges
.
2021 Jun;19(6):899-901.
doi: 10.1111/ddg.14381.
Epub 2021 Mar 25.
Authors
Wiebke Sondermann
1
,
Rainer Büscher
2
,
Henrike Forster
2
,
Florian Stehling
3
,
Judith Fischer
4
,
Yinghong He
5
,
Cristina Has
6
Affiliations
1
Department of Dermatology, Venereology and Allergology, University Hospital Essen, Essen, Germany.
2
Department of Pediatrics II, Pediatric Nephrology, University Hospital Essen, Essen, Germany.
3
Department of Pediatrics III, Pediatric Pulmonology, University Hospital Essen, Essen, Germany.
4
Institute of Human Genetics, Medical Center - University of Freiburg, Freiburg im Breisgau, Germany.
5
Department of Dermatology, University of Lübeck, Lübeck, Germany.
6
Department of Dermatology, Medical Center, University of Freiburg, Freiburg im Breisgau, Germany.
PMID:
33768705
DOI:
10.1111/ddg.14381
No abstract available
Publication types
Letter
MeSH terms
Humans
Integrin alpha3 / genetics
Lung Diseases, Interstitial* / diagnosis
Lung Diseases, Interstitial* / genetics
Mutation / genetics
Skin Abnormalities*
Substances
ITGA3 protein, human
Integrin alpha3