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Article

Anthropometric characteristics of 65 Polish Smith-Lemli-Opitz patients.

Journal of applied genetics - 1 Sept 2021

Różdżyńska-Świątkowska A, Ciara E, Halat-Wolska P, Krajewska-Walasek M, Jezela-Stanek A

Abstract excerpt

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 physical manifestations of SLOS. There have...

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Identifiers

PMID: 33890232
DOI: 10.1007/s13353-021-00632-5

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