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Table 1 Clinical features and detected mutations of OI patients

From: COL1A1and miR-29b show lower expression levels during osteoblast differentiation of bone marrow stromal cells from Osteogenesis Imperfecta patients

Clinical data

MOOI-I 1

MOOI-III 2

MOOI-III 3

MOOI-I 4

OI Type*1

I

III

III

I

Gender

M

F

M

F

Age (years)

26

23

15

41

Family history

No

No

No

No

Number of fractures

+ 30

+ 30

+ 30

− 30

Bone deformities

Yes

Yes

Yes

Yes

Blue sclera

Yes

Yes

Yes

Yes

Dentinogenesis imperfecta

Yes

Yes

Yes

Yes

Hearing loss

No

No

Yes

Yes

Mutation

COL1A1 c.3076C > T, Arg1026X

COL1A2 c.2503G > A, Gly835Ser

COL1A1 c. 869G > A, Gly290Glu

COL1A1 c.198_204dupCAAGGTG, Leu69Glu-fsX74

  1. *1According to Sillence et al. [2].