Balkan journal of medical genetics : BJMG

Mladenova M, Todorov T, Grozdanova L, Mitev V, Todorova A.
PMID: 34447665
Balkan J Med Genet. 2021 Jul 27;24(1):95-98. doi: 10.2478/bjmg-2021-0001. eCollection 2021 Jun.

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...