TY  - GEN
AU  - Giunta,Cecilia
AU  - Baumann,Matthias
AU  - Fauth,Christine
AU  - Lindert,Uschi
AU  - Abdalla,Ebtesam M
AU  - Brady,Angela F
AU  - Collins,James
AU  - Dastgir,Jahannaz
AU  - Donkervoort,Sandra
AU  - Ghali,Neeti
AU  - Johnson,Diana S
AU  - Kariminejad,Ariana
AU  - Koch,Johannes
AU  - Kraenzlin,Marius
AU  - Lahiri,Nayana
AU  - Lozic,Bernarda
AU  - Manzur,Adnan Y
AU  - Morton,Jenny E V
AU  - Pilch,Jacek
AU  - Pollitt,Rebecca C
AU  - Schreiber,Gudrun
AU  - Shannon,Nora L
AU  - Sobey,Glenda
AU  - Vandersteen,Anthony
AU  - van Dijk,Fleur S
AU  - Witsch-Baumgartner,Martina
AU  - Zschocke,Johannes
AU  - Pope,F Michael
AU  - Bönnemann,Carsten G
AU  - Rohrbach,Marianne
TI  - A cohort of 17 patients with kyphoscoliotic Ehlers-Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history
SN  - 1530-0366
PY  - 2018///1002
KW  - Alleles
KW  - Child
KW  - Child, Preschool
KW  - Chromosome Mapping
KW  - Cohort Studies
KW  - DNA Mutational Analysis
KW  - Ehlers-Danlos Syndrome
KW  - diagnosis
KW  - Female
KW  - Genetic Association Studies
KW  - Humans
KW  - Magnetic Resonance Angiography
KW  - Magnetic Resonance Imaging
KW  - Male
KW  - Mutation
KW  - Peptidylprolyl Isomerase
KW  - genetics
KW  - Phenotype
N1  - Publication Type: Journal Article; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1038/gim.2017.70
ER  -