Anthropometric characteristics of 65 Polish Smith-Lemli-Opitz patients.
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DOI: 10.1007/s13353-021-00632-5
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… read more here.
Keywords: lemli opitz; smith lemli; anthropometric characteristics; characteristics polish ... See more keywords