Enamel Anomalies in a Pachyonychia Congenita Patient with a Mutation in KRT16

J Invest Dermatol. 2019 Jan;139(1):238-241. doi: 10.1016/j.jid.2018.07.005. Epub 2018 Sep 25.

Authors

Olivier Duverger¹, Michael A Cross¹, Frances J D Smith², Maria I Morasso³

Affiliations

¹ Laboratory of Skin Biology, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland, USA.
² Pachyonychia Congenita Project, Holladay, Utah, USA.
³ Laboratory of Skin Biology, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland, USA. Electronic address: [email protected].

No abstract available

Publication types

Case Reports
Letter
Research Support, N.I.H., Intramural

MeSH terms

Biopsy
DNA / genetics*
DNA Mutational Analysis
Dental Enamel / abnormalities*
Dental Enamel / ultrastructure
Female
Humans
Imaging, Three-Dimensional
Immunohistochemistry
Keratin-16 / genetics*
Keratin-16 / metabolism
Microscopy, Electron, Scanning
Mutation*
Pachyonychia Congenita / diagnosis
Pachyonychia Congenita / genetics*
Pachyonychia Congenita / metabolism
Skin / metabolism
Skin / ultrastructure
X-Ray Microtomography / methods
Young Adult

Substances

KRT16 protein, human
Keratin-16
DNA

Grants and funding