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ArticleMolecular genetics & genomic medicine2026

A c.89G>C p.(Gly30Ala) Variant in the DHCR7 Gene as a Cause of a Mild Phenotype in the Smith-Lemli-Opitz Syndrome.

Júlia Martinková et al.PubMed ↗Full text ↗Publisher ↗

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2026

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A c.89G>C p.(Gly30Ala) Variant in the DHCR7 Gene as a Cause of a Mild Phenotype in the Smith-Lemli-Opitz Syndrome. | OpenQuestion