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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
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| Published in: | Molecular Genetics & Genomic Medicine |
|---|---|
| Format: | Online Article RSS Article |
| Published: |
2026
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| _version_ | 1868552985328484353 |
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| collection | WordPress RSS FRELIP Feed Integration |
| container_title | Molecular Genetics & Genomic Medicine |
| description | |
| discipline_display | Genetics |
| discipline_facet | Genetics |
| format | Online Article RSS Article |
| genre | Journal Article |
| id | rss_article:70975 |
| institution | FRELIP |
| journal_source_facet | Molecular Genetics & Genomic Medicine |
| last_indexed | 2026-06-20T21:29:44.956Z |
| publishDate | 2026 |
| publishDateSort | 2026 |
| record_format | rss_article |
| spellingShingle | A c.89G>C p.(Gly30Ala) Variant in the DHCR7 Gene as a Cause of a Mild Phenotype in the Smith‐Lemli‐Opitz Syndrome Genetics General Genetics |
| sub_discipline_display | General |
| sub_discipline_facet | General |
| subject_display | Genetics General Genetics |
| subject_facet | Genetics General Genetics |
| title | A c.89G>C p.(Gly30Ala) Variant in the DHCR7 Gene as a Cause of a Mild Phenotype in the Smith‐Lemli‐Opitz Syndrome |
| title_alt | Una variante c.89G>C p.(Gly30Ala) en el gen DHCR7 como causa de un fenotipo leve en el síndrome de Smith-Lemli-Opitz Un variant c.89G>C p.(Gly30Ala) dans le gène DHCR7 comme cause d'un phénotype léger dans le syndrome de Smith-Lemli-Opitz Uma variante c.89G>C p.(Gly30Ala) no gene DHCR7 como causa de um fenótipo leve na síndrome de Smith-Lemli-Opitz |
| title_auth | A c.89G>C p.(Gly30Ala) Variant in the DHCR7 Gene as a Cause of a Mild Phenotype in the Smith‐Lemli‐Opitz Syndrome |
| title_es_txt | Una variante c.89G>C p.(Gly30Ala) en el gen DHCR7 como causa de un fenotipo leve en el síndrome de Smith-Lemli-Opitz |
| title_fr_txt | Un variant c.89G>C p.(Gly30Ala) dans le gène DHCR7 comme cause d'un phénotype léger dans le syndrome de Smith-Lemli-Opitz |
| title_full | A c.89G>C p.(Gly30Ala) Variant in the DHCR7 Gene as a Cause of a Mild Phenotype in the Smith‐Lemli‐Opitz Syndrome |
| title_fullStr | A c.89G>C p.(Gly30Ala) Variant in the DHCR7 Gene as a Cause of a Mild Phenotype in the Smith‐Lemli‐Opitz Syndrome |
| title_full_unstemmed | A c.89G>C p.(Gly30Ala) Variant in the DHCR7 Gene as a Cause of a Mild Phenotype in the Smith‐Lemli‐Opitz Syndrome |
| title_pt_txt | Uma variante c.89G>C p.(Gly30Ala) no gene DHCR7 como causa de um fenótipo leve na síndrome de Smith-Lemli-Opitz |
| title_short | A c.89G>C p.(Gly30Ala) Variant in the DHCR7 Gene as a Cause of a Mild Phenotype in the Smith‐Lemli‐Opitz Syndrome |
| title_sort | a c.89g>c p.(gly30ala) variant in the dhcr7 gene as a cause of a mild phenotype in the smith‐lemli‐opitz syndrome |
| topic | Genetics General Genetics |
| url | https://onlinelibrary.wiley.com/doi/10.1002/mgg3.70222?af=R |