Rozdzynska-Swiatkowska, A.; Ciara, E.; Halat-Wolska, P.; Krajewska-Walasek, M.; Jezela-Stanek, A. published the artcile< Anthropometric characteristics of 65 Polish Smith-Lemli-Opitz patients>, HPLC of Formula: 434-16-2, the main research area is smith lemli opitz syndrome; 7-Dehydrocholesterol; Anthropometry; DHCR7 gene; Growth; Smith-Lemli-Opitz syndrome.
Abstract: Smith-Lemli-Opitz syndrome (SLOS) belongs to a group of multiple congenital anomaly/developmental delay disorders. Its primary cause lies in the defect in cholesterol biosynthesis-7-dehydrocholesterol reductase (DHCR7)-caused by pathogenic variants in the homonymous gene. Anthropometric anomalies, especially growth restriction and microcephaly, are among the most common phys. manifestations of SLOS. There have been no studies analyzing the correlation between genotype, biochem. marker (7-dehydrocholesterol), and the birth and growth parameters for individuals with SLOS. This paper presents anthropometric data from the group of 65 Polish patients (aged 0.1 to 18 years) with Smith-Lemli-Opitz syndrome, with genotype and biochem. correlations for birth parameters, as well as growth in relation to mol. DHCR7 variants.
Journal of Applied Genetics published new progress about Biomarkers. 434-16-2 belongs to class alcohols-buliding-blocks, and the molecular formula is C27H44O, HPLC of Formula: 434-16-2.
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