(Q38724588)

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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.

scientific article published on 15 June 2017

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22 March 2020

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 (English)

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22 March 2020

Ehlers-Danlos syndrome

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Ariana Kariminejad

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Rebecca C Pollitt

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Marianne Rohrbach

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Neeti Ghali

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Matthias Baumann

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22 March 2020

Christine Fauth

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Uschi Lindert

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Ebtesam M Abdalla

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Angela F Brady

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James Collins

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Jahannaz Dastgir

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Sandra Donkervoort

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Diana S Johnson

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Johannes Koch

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Marius Kraenzlin

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Bernarda Lozic

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22 March 2020

Adnan Y Manzur

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22 March 2020

Jenny E V Morton

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22 March 2020

Gudrun Schreiber

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Nora L Shannon

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Glenda Sobey

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Anthony Vandersteen

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22 March 2020

Fleur S van Dijk

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22 March 2020

Martina Witsch-Baumgartner

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22 March 2020

Johannes Zschocke

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22 March 2020

F Michael Pope

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22 March 2020

Carsten G Bönnemann

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15 June 2017

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22 March 2020

Genetics in Medicine

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22 March 2020

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42-54

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22 March 2020

https://scigraph.springernature.com/pub.10.1038/gim.2017.70

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The 2017 international classification of the Ehlers-Danlos syndromes

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Perspectives on the revised Ghent criteria for the diagnosis of Marfan syndrome

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23 June 2018

Structure of human peptidyl-prolylcis-transisomerase FKBP22 containing two EF-hand motifs

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Ehlers Danlos Syndrome: An Unusual Presentation You Need to Know about

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23 June 2018

Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss

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Neuromuscular imaging in inherited muscle diseases

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Muscle interstitial fibroblasts are the main source of collagen VI synthesis in skeletal muscle: implications for congenital muscular dystrophy types Ullrich and Bethlem

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Muscle imaging in clinical practice: diagnostic value of muscle magnetic resonance imaging in inherited neuromuscular disorders

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Connective tissue disorders with spontaneous spinal cerebrospinal fluid leaks and intracranial hypotension: a prospective study

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23 June 2018

Further delineation of FKBP14-related Ehlers-Danlos syndrome: A patient with early vascular complications and non-progressive kyphoscoliosis, and literature review.

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The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations.

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A substrate preference for the rough endoplasmic reticulum resident protein FKBP22 during collagen biosynthesis

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Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers-Danlos syndrome (EDS VIA).

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Patients with type IV Ehlers-Danlos syndrome may be predisposed to atlantoaxial subluxation.

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Atlanto-axial, Atlanto-occipital dislocations, developmental cervical canal stenosis in the Ehlers-Danlos syndrome (author's transl)

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FKBP14-related Ehlers-Danlos syndrome: Expansion of the phenotype to include vascular complications

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Excessively redundant umbilical skin as a potential early clinical feature of Morquio syndrome and FKBP14-related Ehlers-Danlos syndrome

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7 January 2021

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A case of Ehlers-Danlos syndrome associated with cleft lip and palate

1 reference

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7 January 2021

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Familial Ehlers-Danlos syndrome type II: abnormal fibrillogenesis of dermal collagen

1 reference

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7 January 2021

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Identifiers

10.1038/GIM.2017.70

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22 March 2020

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22 March 2020

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22 March 2020

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