KBG syndrome is a rare disease characterized by intellectual disability, typical craniofacial dysmorphism, macrodontia of the upper central incisors, short stature, and skeletal anomalies. Recently, ANKRD11 was identified as a gene that is responsible for the disease. In addition, microdeletion of ...
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We report a 15-year-old Italian boy with G6PD Nilgiri (c.593G4A, p.Arg198His), a typical Indian variant of the Nilgiris tribal groups. Further, this variant was biochemically characterized, and the molecular screening of the family highlighted a de novo mutational event. To date, this ...
Korean names are exotic, mysterious, and beautiful. They sound different from the typical Western names and have a lot of exciting meanings attached to them. For example, if you name a character as “Soo-Jung,” it means “the state of being clear and bright.” ...
Spastic paraplegia (SPG) type 4 is an autosomal dominant SPG caused by functional variants in the SPAST gene. We examined a Japanese family with three autosomal dominant SPG patients. These patients presented with typical symptoms of SPG, such as spastic
Like other teenagers, Pan likes playing with her smartphone and watching Korean TV series. Pan lives in a fishing village on China’s island province of Hainan. Her 17-year-old “husband” fishes with his father, while her mother-in-law, 40, stays at home with Pan and the baby. ...
A typical view of Korean traditional buildings,站酷海洛,一站式正版视觉内容平台,站酷旗下品牌.授权内容包含正版商业图片、艺术插画、矢量、视频、音乐素材、字体等,已先后为阿里巴巴、京东、亚马逊、小米、联想、奥美、盛世长城、百度、360、招商银行、工商银行等数万家
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