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Novel GPC3 Gene Mutation in Simpson-Golabi-Behmel Syndrome with Endocrine Anomalies: A Case Report
Simpson-Golabi-Behmel syndrome (SGBS) represents a rare X-linked recessive syndrome with prenatal and postnatal overgrowth, coarse facial features, congenital malformations, organomegaly and an increased risk of tumors. Mutations on the GPC3 gene, encoding the glypican-3 protein, have previously bee...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Sciendo
2022
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9524176/ https://www.ncbi.nlm.nih.gov/pubmed/36249515 http://dx.doi.org/10.2478/bjmg-2021-0024 |