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Mutations in FKBP14 Cause a Variant of Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss |
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Title: |
Mutations in FKBP14 Cause a Variant of Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss |
Author: |
Baumann, Matthias Giunta, Cecilia Krabichler, Birgit Rüschendorf, Franz Zoppi, Nicoletta Colombi, Marina Bittner, Reginald E. Quijano-Roy, Susana Muntoni, Francesco Cirak, Sebahattin Schreiber, Gudrun Zou, Yaqun Hu, Ying Romero, Norma Beatriz Carlier, Robert Yves Amberger, Albert Deutschmann, Andrea Straub, Volker Rohrbach, Marianne Steinmann, Beat Rostásy, Kevin Karall, Daniela Bönnemann, Carsten G. Zschocke, Johannes Fauth, Christine |
Appeared in: |
The American journal of human genetics |
Paging: |
Volume 90 (2012) nr. 2 pages 16 p. |
Year: |
2012 |
Contents: |
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Publisher: |
The American Society of Human Genetics |
Source file: |
Elektronische Wetenschappelijke Tijdschriften |
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