| Id |
Subject |
Object |
Predicate |
Lexical cue |
| T1 |
0-127 |
Sentence |
denotes |
Osteogenesis imperfecta type III with intracranial hemorrhage and brachydactyly associated with mutations in exon 49 of COL1A2. |
| T2 |
128-233 |
Sentence |
denotes |
Osteogenesis imperfecta (OI) is a heritable bone disorder characterized by fractures with minimal trauma. |
| T3 |
234-309 |
Sentence |
denotes |
Intracranial hemorrhage has been reported in a small number of OI patients. |
| T4 |
310-509 |
Sentence |
denotes |
Here we describe three patients, a boy (aged 15 years) and two girls (aged 17 and 7 years) with OI type III who suffered intracranial hemorrhage and in addition had brachydactyly and nail hypoplasia. |
| T5 |
510-722 |
Sentence |
denotes |
In all of these patients, OI was caused by glycine mutations affecting exon 49 of the COL1A2 gene, which codes for the most carboxy-terminal part of the triple-helical domain of the collagen type I alpha 2 chain. |
| T6 |
723-890 |
Sentence |
denotes |
These observations suggest that mutations in this region of the collagen type I alpha 2 chain carry a high risk of abnormal limb development and intracranial bleeding. |
