In Japan, names have historically been written using kanji (Chinese characters), with some names also incorporating hiragana or katakana, and even a mix of kanji and kana. Traditional names tend to use kun'yomi (native Japanese) kanji readings, though many given names and surnames use on'yomi...
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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
This article reports the first case of a Japanese girl with molecularly confirmed Myhre syndrome (MS). The patient was 9 years old at her first visit, and she had been diagnosed with unknown skeletal dysplasia. Her phenotype fulfilled the clinical and radiological criteria for MS, such as typic...
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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 identified compound heterozygous pathogenic variants in....
Case presentation A 1-year-old Japanese girl was admitted to our hospital for living donor liver transplantation. She suffered from obstructive jaundice owing to biliary atresia. She also had persistent hypocalcemia. Despite oral calcium and abundant vitamin D supplementation, a laboratory test showed ...
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...
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