- Tytuł:
- PLACK syndrome: the penny dropped.
- Autorzy:
- Źródło:
- Clinical and experimental dermatology [Clin Exp Dermatol] 2020 Dec; Vol. 45 (8), pp. 1091-1092. Date of Electronic Publication: 2020 Sep 12.
- Typ publikacji:
- Case Reports; Journal Article
- MeSH Terms:
-
Calcium-Binding Proteins/*genetics
Skin Diseases /*congenitalSkin Diseases , Genetic/*genetics
Afghanistan/ethnology ; Cheilitis/genetics ; Cheilitis/pathology ; Child, Preschool ; Codon, Nonsense ; Diagnosis, Differential ; Female ; Heterozygote ; Humans ; Hypopigmentation/genetics ; Hypopigmentation/pathology ; Keratosis/genetics ; Keratosis/pathology ; Nail Diseases/congenital ; Nail Diseases/genetics ; Nail Diseases/pathology ; Parents ;Skin Diseases /diagnosis ;Skin Diseases /genetics ;Skin Diseases /pathology ; Exome Sequencing/standards - SCR Disease Name:
- Leukonychia totalis; Peeling skin syndrome, acral type
Czasopismo naukowe