PedAM
Pediatric Disease Annotations & Medicines
| Disease | skeletal dysplasia |
| Phenotype | C0220659|acrodysostosis |
| Sentences | 1 |
| PubMedID- 26347651 | This heterozygous de novo mutation has been identified in patients with acrodysostosis (a rare form of skeletal dysplasia) which is caused through a resistance to several hormones (linglart et al., 2011). |
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