| 1 |
Primary muscle involvement in a 15-year-old girl with the recurrent homozygous c.362dupC variant in FKBP14.
4
|
Castori M...Bertini E
|
30561154
|
2019 |
| 2 |
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.
4
|
Giunta C...Rohrbach M
|
28617417
|
2018 |
| 3 |
The 2017 international classification of the Ehlers-Danlos syndromes.
4
|
Malfait F...Tinkle B
|
28306229
|
2017 |
| 4 |
The Ehlers-Danlos syndromes, rare types.
4
|
Brady AF...Malfait F
|
28306225
|
2017 |
| 5 |
Ehlers-Danlos syndrome related to FKBP14 mutations: detailed cutaneous phenotype.
4
|
Bursztejn AC...Lipsker D
|
27905128
|
2017 |
| 6 |
Further delineation of FKBP14-related Ehlers-Danlos syndrome: A patient with early vascular complications and non-progressive kyphoscoliosis, and literature review.
4
|
Dordoni C...Colombi M
|
27149304
|
2016 |
| 7 |
Excessively redundant umbilical skin as a potential early clinical feature of Morquio syndrome and FKBP14-related Ehlers-Danlos syndrome.
4
|
Aldeeri AA...Alkuraya FS
|
24773188
|
2014 |
| 8 |
FKBP14-related Ehlers-Danlos syndrome: expansion of the phenotype to include vascular complications.
4
|
Murray ML...Byers PH
|
24677762
|
2014 |
| 9 |
A substrate preference for the rough endoplasmic reticulum resident protein FKBP22 during collagen biosynthesis.
4
|
Ishikawa Y...Bachinger HP
|
24821723
|
2014 |
| 10 |
Structure of human peptidyl-prolyl cis-trans isomerase FKBP22 containing two EF-hand motifs.
4
|
Boudko SP...Bachinger HP
|
24272907
|
2014 |
| 11 |
Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss.
4
|
Baumann M...Fauth C
|
22265013
|
2012 |
| 12 |
Effect of celiprolol on prevention of cardiovascular events in vascular Ehlers-Danlos syndrome: a prospective randomised, open, blinded-endpoints trial.
4
|
Ong KT...Boutouyrie P
|
20825986
|
2010 |
| 13 |
Transcriptome Profiling of Primary Skin Fibroblasts Reveal Distinct Molecular Features Between PLOD1- and FKBP14-Kyphoscoliotic Ehlers-Danlos Syndrome.
38
|
Lim PJ...Giunta C
|
31288483
|
2019 |
| 14 |
FKBP14 kyphoscoliotic Ehlers-Danlos Syndrome in adolescent patient: the first Colombian report.
38
|
Ruiz-Botero F...Pachajoa H
|
31063316
|
2019 |
| 15 |
FKBP14 Kyphoscoliotic Ehlers-Danlos Syndrome
38
|
Giunta C...Baumann M
|
31132235
|
2019 |
