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Novel Mutation in the COL11A1 Gene Causing Marshall-Stickler Syndrome in three Generations of a Bulgarian Family
Here we report the first familial case spread through at least three generations, genetically verified cases of Marshall-Stickler syndrome in Bulgaria. The proband, a 2-year-old girl, has craniofacial dysplasia, ocular hypertelorism, small saddle nose with a flat bridge and midface hypoplasia. The p...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Sciendo
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8366474/ https://www.ncbi.nlm.nih.gov/pubmed/34447665 http://dx.doi.org/10.2478/bjmg-2021-0001 |