Novel mutation in the COL11A1 gene causing Marshall-Stickler syndrome in three generations of a Bulgarian family
, , , oraz
27 lip 2021
O artykule
Kategoria artykułu: Case Report
Data publikacji: 27 lip 2021
Zakres stron: 95 - 98
DOI: https://doi.org/10.2478/bjmg-2021-0001
Słowa kluczowe
© 2021 Mladenova M, Todorov T, Grozdanova L, Mitev V, Todorova A, published by Sciendo
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.
Mladenova, M
Department of Medical Chemistry and Biochemistry, Medical University SofiaSofia, Bulgaria
Genetic Medico-Diagnostic Laboratory “Genica,”Sofia, Bulgaria
Todorov, T
Genetic Medico-Diagnostic Laboratory “Genica,”Sofia, Bulgaria
Grozdanova, L
Department of Medical Genetics, University Hospital “St. George,”Plovdiv, Bulgaria
Mitev, V
Department of Medical Chemistry and Biochemistry, Medical University SofiaSofia, Bulgaria
Todorova, A
Department of Medical Chemistry and Biochemistry, Medical University SofiaSofia, Bulgaria
Genetic Medico-Diagnostic Laboratory “Genica,”Sofia, Bulgaria