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-Reference-Cited by-同舟云学术

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

Published:2018-01 Issue:1 Volume:20 Page:42-54
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Giunta Cecilia,Baumann Matthias,Fauth Christine,Lindert Uschi,Abdalla Ebtesam M.,Brady Angela F.,Collins James,Dastgir Jahannaz,Donkervoort Sandra,Ghali Neeti,Johnson Diana S.,Kariminejad Ariana,Koch Johannes,Kraenzlin Marius,Lahiri Nayana,Lozic Bernarda,Manzur Adnan Y.,Morton Jenny E.V.,Pilch Jacek,Pollitt Rebecca C.,Schreiber Gudrun,Shannon Nora L.,Sobey Glenda,Vandersteen Anthony,van Dijk Fleur S.,Witsch-Baumgartner Martina,Zschocke Johannes,Pope F. Michael,Bönnemann Carsten G.,Rohrbach Marianne

Publisher

Elsevier BV

Subject

Genetics (clinical)

Link

http://www.nature.com/articles/gim201770.pdf

Reference30 articles.

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