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Novel mutation in the COL11A1 gene causing Marshall-Stickler syndrome in three generations of a Bulgarian family

M Mladenova

M Mladenova

  • Department of Medical Chemistry and Biochemistry, Medical University SofiaSofia, Bulgaria
  • Genetic Medico-Diagnostic Laboratory “Genica,”Sofia, Bulgaria
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Mladenova, M
, 
T Todorov

T Todorov

Genetic Medico-Diagnostic Laboratory “Genica,”Sofia, Bulgaria
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Todorov, T
, 
L Grozdanova

L Grozdanova

Department of Medical Genetics, University Hospital “St. George,”Plovdiv, Bulgaria
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Grozdanova, L
, 
V Mitev

V Mitev

Department of Medical Chemistry and Biochemistry, Medical University SofiaSofia, Bulgaria
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Mitev, V
 and 
A Todorova

A Todorova

  • Department of Medical Chemistry and Biochemistry, Medical University SofiaSofia, Bulgaria
  • Genetic Medico-Diagnostic Laboratory “Genica,”Sofia, Bulgaria
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Todorova, A
  
Jul 27, 2021
Novel mutation in the COL11A1 gene causing Marshall-Stickler syndrome in three generations of a Bulgarian family's Cover Image
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Article Category: Case Report
Published Online: Jul 27, 2021
Page range: 95 - 98
DOI: https://doi.org/10.2478/bjmg-2021-0001
Keywords
© 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.
Language:
English
Publication timeframe:
2 times per year
Journal Subjects:
Medicine, Basic Medical Science, Basic Medical Science, other
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