TY  - GEN
AU  - Baumann,Matthias
AU  - Giunta,Cecilia
AU  - Krabichler,Birgit
AU  - Rüschendorf,Franz
AU  - Zoppi,Nicoletta
AU  - Colombi,Marina
AU  - Bittner,Reginald E
AU  - Quijano-Roy,Susana
AU  - Muntoni,Francesco
AU  - Cirak,Sebahattin
AU  - Schreiber,Gudrun
AU  - Zou,Yaqun
AU  - Hu,Ying
AU  - Romero,Norma Beatriz
AU  - Carlier,Robert Yves
AU  - Amberger,Albert
AU  - Deutschmann,Andrea
AU  - Straub,Volker
AU  - Rohrbach,Marianne
AU  - Steinmann,Beat
AU  - Rostásy,Kevin
AU  - Karall,Daniela
AU  - Bönnemann,Carsten G
AU  - Zschocke,Johannes
AU  - Fauth,Christine
TI  - Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss
SN  - 1537-6605
PY  - 2012///0619
KW  - Abnormalities, Multiple
KW  - genetics
KW  - Adolescent
KW  - Amino Acids
KW  - urine
KW  - Child
KW  - Child, Preschool
KW  - Ehlers-Danlos Syndrome
KW  - Endoplasmic Reticulum
KW  - Extracellular Matrix
KW  - Female
KW  - Fibroblasts
KW  - metabolism
KW  - Frameshift Mutation
KW  - Genetic Variation
KW  - Hearing Loss
KW  - Heterozygote
KW  - Homozygote
KW  - Humans
KW  - Male
KW  - Middle Aged
KW  - Peptidylprolyl Isomerase
KW  - Phenotype
KW  - Protein Folding
KW  - cis-trans-Isomerases
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.ajhg.2011.12.004
ER  -