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Am J Hum Genet
Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss
- M. Baumann
- C. Giunta
- B. Krabichler
- F. Rueschendorf
- N. Zoppi
- M. Colombi
- R.E. Bittner
- S. Quijano-Roy
- F. Muntoni
- S. Cirak
- G. Schreiber
- Y. Zou
- Y. Hu
- N.B. Romero
- R.Y. Carlier
- A. Amberger
- A. Deutschmann
- V. Straub
- M. Rohrbach
- B. Steinmann
- K. Rostasy
- D. Karall
- C.G. Boennemann
- J. Zschocke
- C. Fauth