TY  - GEN
AU  - Seidl-Philipp,Magdalena
AU  - Schossig,Anna Sarah
AU  - Moosbrugger-Martinz,Verena
AU  - Zschocke,Johannes
AU  - Schmuth,Matthias
AU  - Gruber,Robert
TI  - Impaired epidermal barrier in autosomal recessive congenital ichthyosis (ARCI) caused by missense mutations in SDR9C7 in two Austrian sisters
SN  - 1610-0387
PY  - 2020///0702
KW  - Adult
KW  - Austria
KW  - Epidermis
KW  - pathology
KW  - Female
KW  - Genes, Recessive
KW  - Humans
KW  - Ichthyosiform Erythroderma, Congenital
KW  - genetics
KW  - Ichthyosis, Lamellar
KW  - Mutation, Missense
KW  - Oxidoreductases
KW  - Siblings
N1  - Publication Type: Case Reports; Letter
UR  - https://doi.org/10.1111/ddg.13843
ER  -