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We report a Japanese girl with mild xeroderma pigmentosum group D neurological disease. She had short stature, cataracts, intellectual disability, and mild skin symptoms. However, she was not clinically diagnosed. Using whole-exome sequencing, we identif
Japanese New Year, known as Oshōgatsu (正月), is one of Japan’s most widely celebrated holidays. This festive period, rich in history and cultural significance, marks a time of renewal, family gatherings, and traditional customs. Spanning several days, Oshōgatsu combines solemnity and joy, ...
The article focuses on a Japanese girl with aldosterone synthase deficiency (ASD), a rare autosomal recessive disorder causing severe dehydration, salt wasting, and failure to thrive in infancy due to CYP11B2 gene variants. Topics discussed include the patient's clinical presentation, genetic analysis...
Hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR) syndrome is an autosomal dominant disorder. We report the first detailed case of hypoparathyroidism complicated by biliary atresia. A 1-year-old Japanese girl was admitted to our hospi
A Japanese girl with peculiar leukoencephalopathy was reported. Following normal development until 1 year of age, she showed progressive neurological deterioration with ataxia, epilepsy, pyramidal tract signs and choreic movement. Serial brain computed tomographies (CTs) revealed markedly low density and ...
预览播放中,打开优酷APP看高清完整版 Cute Japanese Girl Carries me and let me watch some Unique scene A +追 超清画质 评论 收藏 下载 分享 选集 09:20 2024 X-TRIAL PAMPLONA 🇪🇸 (Spain) | News Highlights 2024-11-17 05:29 DIY Best Ever Toy Slam Dunk Double Bubble Mini Gumball Machine ...
四、完形填空从四个选项中选出正确答案I am a Japanese girl.My40 Nancy King.I4112 years old(岁数).42 first name isNancy and my43name is King.I'm 44 Class Three,Grade Seven.I have 45 ID card.Its 46is368899.Ms.Li is my English teacher.47_is very nice.We all like(都喜欢)her ...
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