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Ranad Shaheen, Mohammed Al-Owain, Nadia Sakati, Zayed S

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Presentation on theme: "Ranad Shaheen, Mohammed Al-Owain, Nadia Sakati, Zayed S"— Presentation transcript:

1 FKBP10 and Bruck Syndrome: Phenotypic Heterogeneity or Call for Reclassification? 
Ranad Shaheen, Mohammed Al-Owain, Nadia Sakati, Zayed S. Alzayed, Fowzan S. Alkuraya  The American Journal of Human Genetics  Volume 87, Issue 4, (October 2010) DOI: /j.ajhg Copyright © 2010 The American Society of Human Genetics Terms and Conditions

2 Figure 1 A Novel FKBP10 Mutation in Two Siblings with Bruck Syndrome
(A) Clinical photographs of the index patient and (B) his brother showing fixed flexion deformity of the elbows. (C) Note the severe flexion deformity of the knees in the index patient; the ankles are less severely involved. (D) Thoracolumar spine X-ray showing scoliosis and osteopenia. Severe protrusio acetabuli and intrmedullary rod fixation of the right femur fracture can also be seen. (E) Schematic representation of FKBP65 with the location of mutations indicated by arrows. Our mutation is boxed and shown next to the sequence chromatogram; the duplicated 8 bp are indicated by a red line. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2010 The American Society of Human Genetics Terms and Conditions

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