Je Yeon Kim Shin Hye Kim Mi Jung Park Soung Hee Kim Woo Ho Cho Jin Choi Chang Seok Ki Su Jeong You
10.3343/alm.2018.38.1.80
Ann Lab Med
2018 Jan;38(1):80-82.
CC BY-NC
https://pubmed.ncbi.nlm.nih.gov/29071827/
Aldehyde Oxidoreductases / genetics Sjogren-Larsson Syndrome / diagnosis
Aldehyde Oxidoreductases / genetics Sjogren-Larsson Syndrome / diagnosis Case Reports Letter Brain / diagnostic imaging Child Homozygote Humans Ichthyosis / diagnosis Magnetic Resonance Imaging Male Pedigree Republic of Korea Retinitis Pigmentosa / diagnosis Sequence Analysis, DNA Sjogren-Larsson Syndrome / genetics Aldehyde Oxidoreductases long-chain-aldehyde dehydrogenase
PMC5700155
29071827
Identification of Homozygous Likely Pathogenic Variant of ALDH3A2 in a Korean Boy with Sjögren-Larsson Syndrome
2018