article_metadata: Je Yeon Kim Shin Hye Kim Mi Jung Park Soung Hee Kim Woo Ho Cho Jin Choi Chang Seok Ki Su Jeong You
article_metadata: 10.3343/alm.2018.38.1.80
article_metadata: Ann Lab Med
article_metadata: 2018 Jan;38(1):80-82.
article_metadata: CC BY-NC
article_metadata: https://pubmed.ncbi.nlm.nih.gov/29071827/
article_metadata: Aldehyde Oxidoreductases / genetics Sjogren-Larsson Syndrome / diagnosis
article_metadata: 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
article_metadata: PMC5700155
article_metadata: 29071827
article_metadata: Identification of Homozygous Likely Pathogenic Variant of ALDH3A2 in a Korean Boy with Sjögren-Larsson Syndrome
article_metadata: 2018