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Compound heterozygous FAM20C gene variants in a patient with severe Raine syndrome: a case report
Raine syndrome is a congenital disorder caused by biallelic mutations in the FAM20C gene. While most diagnosed cases of the syndrome are lethal in the first few months of life, there are also reports of non-lethal cases with Raine syndrome. The characteristic of this syndrome is typical facial dysmo...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10171555/ https://www.ncbi.nlm.nih.gov/pubmed/37180977 http://dx.doi.org/10.3389/fgene.2023.1179163 |