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Identification of Homozygous Likely Pathogenic Variant of ALDH3A2 in a Korean Boy with Sjögren-Larsson Syndrome.
Kim, Je Yeon; Kim, Shin Hye; Park, Mi Jung; Kim, Soung Hee; Cho, Woo Ho; Choi, Jin; Ki, Chang Seok; You, Su Jeong.
Affiliation
  • Kim JY; Department of Pediatrics, Inje University Sanggye Paik Hospital, Inje University College of Medicine, Seoul, Korea.
  • Kim SH; Department of Pediatrics, Inje University Sanggye Paik Hospital, Inje University College of Medicine, Seoul, Korea.
  • Park MJ; Department of Pediatrics, Inje University Sanggye Paik Hospital, Inje University College of Medicine, Seoul, Korea.
  • Kim SH; Department of Radiology, Inje University Sanggye Paik Hospital, Inje University College of Medicine, Seoul, Korea.
  • Cho WH; Department of Radiology, Inje University Sanggye Paik Hospital, Inje University College of Medicine, Seoul, Korea.
  • Choi J; Department of Ophthalmology, Inje University Sanggye Paik Hospital, Inje University College of Medicine, Seoul, Korea.
  • Ki CS; Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. changski@skku.edu.
  • You SJ; Department of Pediatrics, Inje University Sanggye Paik Hospital, Inje University College of Medicine, Seoul, Korea. sjyou@paik.ac.kr.or.
Ann Lab Med ; 38(1): 80-82, 2018 01.
Article in En | MEDLINE | ID: mdl-29071827
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Sjogren-Larsson Syndrome / Aldehyde Oxidoreductases Type of study: Diagnostic_studies / Prognostic_studies Limits: Child / Humans / Male Country/Region as subject: Asia Language: En Journal: Ann Lab Med Year: 2018 Document type: Article Country of publication:
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Sjogren-Larsson Syndrome / Aldehyde Oxidoreductases Type of study: Diagnostic_studies / Prognostic_studies Limits: Child / Humans / Male Country/Region as subject: Asia Language: En Journal: Ann Lab Med Year: 2018 Document type: Article Country of publication: