Severe skin fragility with postnatal lethal outcome due to a biallelic KRT5 mutation
J Dtsch Dermatol Ges
.
2021 Mar;19(3):440-442.
doi: 10.1111/ddg.14277.
Epub 2020 Sep 28.
Authors
Şule Altıner
1
2
,
Berna Hekimoğlu
3
,
Ayten Livaoğlu
4
,
Cristina Has
5
Affiliations
1
Department of Medical Genetics, Trabzon Kanuni Training and Research Hospital, University of Health Sciences, Trabzon, Turkey.
2
Department of Medical Genetics, Ankara University School of Medicine, Ankara, Turkey.
3
Division of Neonatology, Department of Pediatrics, Trabzon Kanuni Training and Research Hospital, University of Health Sciences, Trabzon, Turkey.
4
Department of Pathology, Trabzon Kanuni Training and Research Hospital, University of Health Sciences, Trabzon, Turkey.
5
Department of Dermatology, Medical Center - University of Freiburg, Faculty of Medicine, Freiburg, Germany.
PMID:
32989862
DOI:
10.1111/ddg.14277
No abstract available
Publication types
Letter
MeSH terms
Humans
Keratin-5 / genetics
Mutation / genetics
Phenotype
Skin Abnormalities*
Substances
KRT5 protein, human
Keratin-5