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...

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Detalles Bibliográficos
Autores principales: Mladenova, M, Todorov, T, Grozdanova, L, Mitev, V, Todorova, A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sciendo 2021
Materias:
Case Report
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

Internet

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

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