Identification of Homozygous Likely Pathogenic Variant of ALDH3A2 in a Korean Boy with Sj?gren-Larsson Syndrome-Reference-Cited by-同舟云学术

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Identification of Homozygous Likely Pathogenic Variant of ALDH3A2 in a Korean Boy with Sj?gren-Larsson Syndrome

Published:2018-01-28 Issue:1 Volume:38 Page:80-82
ISSN:2234-3806
Container-title:Annals of Laboratory Medicine
language:en
Short-container-title:Ann Lab Med

Author:

Kim Je Yeon¹,Kim Shin-Hye¹,Park Mi-Jung¹,Kim Soung Hee²,Cho Woo Ho²,Choi Jin³,Ki Chang-Seok⁴,You Su Jeong¹

Affiliation:

1. Department of Pediatrics, Inje University Sanggye Paik Hospital, Inje University College of Medicine, Seoul, Korea

2. Department of Radiology, Inje University Sanggye Paik Hospital, Inje University College of Medicine, Seoul, Korea

3. Department of Ophthalmology, Inje University Sanggye Paik Hospital, Inje University College of Medicine, Seoul, Korea

4. Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea

Publisher

Annals of Laboratory Medicine

Subject

Biochemistry, medical,Clinical Biochemistry,General Medicine

Link

https://synapse.koreamed.org/pdf/10.3343/alm.2018.38.1.80

Reference10 articles.

1. The Molecular Basis of Sjögren-Larsson Syndrome: Mutation Analysis of the Fatty Aldehyde Dehydrogenase Gene

2. Juvenile macular dystrophy associated with deficient activity of fatty aldehyde dehydrogenase in Sjögren-Larsson syndrome

3. Sjögren–Larsson syndrome: Molecular genetics and biochemical pathogenesis of fatty aldehyde dehydrogenase deficiency

4. A Case of Sjögren-Larsson Syndrome

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Genetic assessment of ten Egyptian patients with Sjögren–Larsson syndrome: expanding the clinical spectrum and reporting a novel ALDH3A2 mutation;Archives of Dermatological Research;2019-08-06

2. Genotype and phenotype variability in Sjögren-Larsson syndrome;Human Mutation;2018-11-26

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