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Article
Open AccessNovel COL2A1 variants in Japanese patients with spondyloepiphyseal dysplasia congenita
Spondyloepiphyseal dysplasia congenita (SEDC) is a multisystemic skeletal disorder caused by pathogenic variants in COL2A1. Here, we report the genotype-phenotype correlations in five Japanese patients with SEDC ...
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Article
Open AccessDiscordant phenotype caused by CASK mutation in siblings with NF1
With the advent of next-generation sequencing (NGS), a blended phenotype has been shown to be caused by multilocus molecular diagnosis. Here, we present siblings of neurofibromatosis type 1 (NF1) with discorda...
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Article
Open AccessNovel COL4A1 mutation in a fetus with early prenatal onset of schizencephaly
Porencephaly and schizencephaly are congenital brain disorders that can be caused by COL4A1 mutations, though the underlying mechanism and developmental processes are poorly understood. Here, we report a patient ...
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Article
Open AccessRefining the clinical phenotype of Okur–Chung neurodevelopmental syndrome
We describe an 8-year-old Japanese boy with a de novo recurrent missense mutation in CSNK2A1, c.593A>G, that is causative of Okur–Chung neurodevelopmental syndrome. He exhibited distinctive facial features, sever...
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Article
Open AccessMaternal socio-demographic and psychological predictors for risk of developmental delays among young children in Mongolia
Factors influencing child development are not well studied in develo** settings, and especially in Mongolia. This cohort study examined the relationship between maternal socio-demographic and psychological c...
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Article
Open AccessAn hour-specific transcutaneous bilirubin nomogram for Mongolian neonates
Transcutaneous bilirubin (TcB) nomograms have been developed for different populations. However, the TcB level, rate of rise and peak varies among countries and ethnicities. The aim of this study was to establ...
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Article
Open AccessValidation of a transcutaneous bilirubin meter in Mongolian neonates: comparison with total serum bilirubin
Neonatal hyperbilirubinemia, especially kernicterus, can be prevented by screening for neonatal jaundice. The transcutaneous bilirubin (TcB) meter is a non-invasive medical device for screening neonates. The s...
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Article
Open AccessA Japanese neonatal case of glucose-6-phosphate dehydrogenase deficiency presenting as severe jaundice and hemolytic anemia without apparent trigger
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is rare among Japanese ethnicity although it is known as one of the most common hereditary disorders of erythrocytes, causing intravascular hemolysis. It is ...
