Table 3 Respiratory rare disease
From: Bone fragility in patients affected by congenital diseases non skeletal in origin
Disease | OMIM phenotype number | OMIM gene/locus number | Gene | Chromosome location | Bone phenotype (specific signs and symptoms) | Bone Biochemical Markers |
|---|---|---|---|---|---|---|
Cystic fibrosis | 219700 | 602421 | CFTR | 7q31.2 | Failure to thrive, defective height-weight growth, osteoporosis, non-traumatic fractures | High serum CTX Low serum 25(OH)D3 |