Shaheen, Ranad

Mutations in FKBP10 cause both Bruck syndrome and isolated osteogenesis imperfecta in humans. [electronic resource] - American journal of medical genetics. Part A Jun 2011 - 1448-52 p. digital

Publication Type: Case Reports; Journal Article

1552-4833

10.1002/ajmg.a.34025 doi


Adolescent
Arthrogryposis--genetics
Base Sequence
Child
Female
Gene Components
Genes, Recessive
Humans
Male
Molecular Sequence Data
Mutation--genetics
Osteogenesis Imperfecta--genetics
Saudi Arabia
Sequence Analysis, DNA
Tacrolimus Binding Proteins--genetics