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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



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD03069O753692317
FLNB
Filamin-B
Homo sapiens