Identification of Homozygous Likely Pathogenic Variant of ALDH3A2 in a Korean Boy with Sj?gren-Larsson Syndrome
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چکیده
منابع مشابه
Identification of Homozygous Likely Pathogenic Variant of ALDH3A2 in a Korean Boy with Sjögren-Larsson Syndrome
Je Yeon Kim, M.D., Shin-Hye Kim, M.D., Mi-Jung Park, M.D., Soung Hee Kim, M.D., Woo Ho Cho, M.D., Jin Choi, M.D., Chang-Seok Ki, M.D., and Su Jeong You, M.D. Department of Pediatrics, Inje University Sanggye Paik Hospital, Inje University College of Medicine, Seoul; Department of Radiology, Inje University Sanggye Paik Hospital, Inje University College of Medicine, Seoul; Department of Ophthalm...
متن کاملIdentification of a novel deletion within ALDH3A2 gene in an Iranian Family with Sjögren–Larsson Syndrome
Sjögren-Larsson syndrome (SLS) is a rare type of congenital ichthyosis with neurological problems and intellectual disability. Homozygous mutations in ALDH3A2 gene are known to be responsible for this syndrome. Here, we report an Iranian family with congenital SLS bearing a novel two-base-pair deletion within ALDH3A2 genomic sequence. Our finding expands the mutation spectrum of ALDH3A2 that is...
متن کاملMicroduplication of Xp22.31 and MECP2 Pathogenic Variant in a Girl with Rett Syndrome: A Case Report
Rett syndrome (RS) is a neurodevelopmental infantile disease characterized by an early normal psychomotor development followed by a regression in the acquisition of normal developmental stages. In the majority of cases, it leads to a sporadic mutation in the MECP2 gene, which is located on the X chromosome. However, this syndrome has also been associated with microdeletions, gene translocations...
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ژورنال
عنوان ژورنال: Annals of Laboratory Medicine
سال: 2018
ISSN: 2234-3806,2234-3814
DOI: 10.3343/alm.2018.38.1.80