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Browse result for Boomerang dysplasia
※ introduction Boomerang dysplasia is a lethal form of osteochondrodysplasia known for a characteristic congenital feature in which bones of the arms and legs are malformed into the shape of a boomerang. Death usually occurs in early infancy due to complications arising from overwhelming systemic bone malformations.
Osteochondrodysplasias are skeletal disorders that cause malformations of both bone and cartilage.
Reference
Wiki: Boomerang dysplasia
Reference
Wiki: Boomerang dysplasia
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD03069 | O75369 | 2317 | FLNB | Filamin-B | Homo sapiens |
