Table 1. Patients clinical characteristic and molecular analysis.

Clinical characteristic							Molecular analysis
Pat.	T.	Age	Severity	Fractures	Bone Def.	Sta.	Gen	E	Mutation	Protein
A	I	20	Mild	Infrequent	Absent	N.	COL1A2	5	N.A.	N.A.
B	IV	42	Moderate	Infrequent	Moderate	Short	COL1A1	13	c.859G>A	p.G287S
C	IV	12	Moderate	Infrequent	Moderate	Short	COL1A1	25	c.1678G>A	p.G560R
D	IV	21	Severe	Frequent	Moderate	Short	COL1A1 COL1A2	8 16	c.613C>G c.775G>A	p.P205A p.G259S
E	III	21	Severe	Frequent	Severe	Short	COL1A2	49	c.3467G>A	p.R1156K

Pat.: Patients, T.: Type, Bone Def.: Bone Deformity, Sta.: Stature, N.: Normal, E.: Exon, N.A.: Not Available.