Mutations in FKBP14 Cause a Variant of Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss - Concepedia

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Mutations in FKBP14 Cause a Variant of Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss

DOI Full Paper Access

156

Citations

32

References

2012

Year

Matthias Baumann, Cecilia Giunta, Birgit Krabichler, Franz Rüschendorf, Nicoletta Zoppi, Marina Colombi, Reginald E. Bittner, Susana Quijano‐Roy, Francesco Muntoni, Gudrun Schreiber,

The American Journal of Human Genetics

Ehlers-danlos SyndromeMendelian DisorderAutoimmune DiseaseDisease MechanismGenetic DisorderPathogenesisImmunologyPathologyFkbp14 CauseMedicineHearing Loss

References

	Year	Citations

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