TY  - GEN
AU  - Temel,Şehime Gülsün
AU  - Karakaş,B
AU  - Şeker,Ü
AU  - Turkgenç,B
AU  - Zorlu,Ö
AU  - Sarıcaoğlu,H
AU  - Oğur,Ç
AU  - Kütük,Ö
AU  - Kelsell,D P
AU  - Yakıcıer,M C
TI  - A novel homozygous nonsense mutation in CAST associated with PLACK syndrome
SN  - 1432-0878
PY  - 2020///0227
KW  - Adult
KW  - Calcium-Binding Proteins
KW  - genetics
KW  - Child, Preschool
KW  - Codon, Nonsense
KW  - Dermatitis, Exfoliative
KW  - Female
KW  - Homozygote
KW  - Humans
KW  - Male
KW  - Skin
KW  - metabolism
KW  - Skin Diseases, Genetic
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1007/s00441-019-03077-9
ER  -