
NOVEL MUTATION IN THE COL11A1 GENE CAUSING
MARSHALL-STICKLER SYNDROME IN THREE
GENERATIONS OF A BULGARIAN FAMILY Mladenova M1,2,*, Todorov T2, Grozdanova L3, Mitev V1, Todorova A1,2 *Corresponding Author: Dr. Mihaela Mladenova, Department of Medical Chemistry and Biochemistry,
Medical University Sofia, 15 Acad. Ivan Geshov Str. Sofia, Bulgaria. Tel.: +359-9520-522. Fax:
+359-2-9155-049. E-mail: mihaela.mladenova@gmail.com page: 95
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