Published in
Elsevier, Genetics in Medicine, 1(20), p. 42-54, 2018
DOI: 10.1038/gim.2017.70
Links
- ORCID
- Elsevier | PDF
- ORCID
- [www.zora.uzh.ch] | PDF
- [openaccess.sgul.ac.uk] | PDF
- [eprints.whiterose.ac.uk] | PDF
Tools
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
Journal article published in 2017 by
Cecilia Giunta,
Matthias Baumann,
Christine Fauth,
Uschi Lindert,
Ebtesam M. Abdalla,
Angela F. Brady,
James Collins,
Jahannaz Dastgir,
Sandra Donkervoort,
Neeti Ghali,
Diana S. Johnson,
Ariana Kariminejad 
,
Johannes Koch,
Marius Kraenzlin,
Nayana Lahiri
and other authors.
,
Johannes Koch,
Marius Kraenzlin,
Nayana Lahiri
and other authors.
This paper is made freely available by the publisher.
Full text: Download
Postprint:
archiving forbidden
Published version:
archiving forbidden
Data provided by 