Novel mutation in the COL11A1 gene causing Marshall-Stickler syndrome in three generations of a Bulgarian family
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27. Juli 2021
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Artikel-Kategorie: Case Report
Online veröffentlicht: 27. Juli 2021
Seitenbereich: 95 - 98
DOI: https://doi.org/10.2478/bjmg-2021-0001
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© 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