Filaggrin 2 Deficiency Results in Abnormal Cell-Cell Adhesion in the Cornified Cell Layers and Causes Peeling Skin Syndrome Type A. [electronic resource]
Producer: 20190610Description: 1736-1743 p. digitalISSN:- 1523-1747
- Adult
- Aged
- Arabs -- genetics
- Biopsy
- Cell Adhesion -- genetics
- Cells, Cultured
- Codon, Nonsense
- Consanguinity
- Dermatitis, Exfoliative -- genetics
- Epidermis -- pathology
- Female
- Filaggrin Proteins
- Homozygote
- Humans
- Keratinocytes -- pathology
- Male
- Microscopy, Electron
- Primary Cell Culture
- S100 Proteins -- genetics
- Skin Diseases, Genetic -- genetics
- Exome Sequencing
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Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
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