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.

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; Bernarda Lozic; Adnan Y Manzur; Jenny E V Morton; Jacek Pilch; Rebecca C Pollitt; Gudrun Schreiber; Nora L Shannon; Glenda Sobey; Anthony Vandersteen; Fleur S van Dijk; Martina Witsch-Baumgartner; Johannes Zschocke; F Michael Pope; Carsten G Bönnemann; Marianne Rohrbach

doi:10.1038/gim.2017.70

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.

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 (Co-author), Marius Kraenzlin, Nayana Lahiri, Bernarda Lozic, Adnan Y Manzur, Jenny E V Morton, Jacek Pilch, Rebecca C PollittGudrun Schreiber, Nora L Shannon, Glenda Sobey, Anthony Vandersteen, Fleur S van Dijk, Martina Witsch-Baumgartner, Johannes Zschocke, F Michael Pope, Carsten G Bönnemann, Marianne Rohrbach

Department of Pediatrics

Research output: Contribution to journal › Original Article › peer-review

18 Citations (Web of Science)

Original language	English
Pages (from-to)	42-54
Journal	GENETICS IN MEDICINE
Volume	20
Issue number	1
DOIs	https://doi.org/10.1038/gim.2017.70
Publication status	Published - 2018

Keywords

CONGENITAL MUSCULAR-DYSTROPHY
CONNECTIVE-TISSUE
VASCULAR COMPLICATIONS
DISORDERS
MUSCLE
DISEASES
ULLRICH
PHENOTYPE
OVERLAP
SKIN

Access to Document

10.1038/gim.2017.70

Cite this

Giunta, C., Baumann, M., Fauth, C., Lindert, U., Abdalla, E. M., Brady, A. F., Collins, J., Dastgir, J., Donkervoort, S., Ghali, N., Johnson, D. S., Kariminejad, A., Koch, J., Kraenzlin, M., Lahiri, N., Lozic, B., Manzur, A. Y., Morton, J. E. V., Pilch, J., ... Rohrbach, M. (2018). 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. GENETICS IN MEDICINE , 20(1), 42-54. https://doi.org/10.1038/gim.2017.70

Giunta, Cecilia ; Baumann, Matthias ; Fauth, Christine et al. / 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. In: GENETICS IN MEDICINE 2018 ; Vol. 20, No. 1. pp. 42-54.

@article{cfd43d20b0be42ae8395ae301da9c971,

title = "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.",

keywords = "CONGENITAL MUSCULAR-DYSTROPHY, CONNECTIVE-TISSUE, VASCULAR COMPLICATIONS, DISORDERS, MUSCLE, DISEASES, ULLRICH, PHENOTYPE, OVERLAP, SKIN",

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

note = "Koch: Department of Pediatrics, Paracelsus Medical University Salzburg, Salzburg, Austria",

year = "2018",

doi = "10.1038/gim.2017.70",

language = "English",

volume = "20",

pages = "42--54",

journal = "GENETICS IN MEDICINE ",

issn = "1098-3600",

number = "1",

}

Giunta, C, Baumann, M, Fauth, C, Lindert, U, Abdalla, EM, Brady, AF, Collins, J, Dastgir, J, Donkervoort, S, Ghali, N, Johnson, DS, Kariminejad, A, Koch, J, Kraenzlin, M, Lahiri, N, Lozic, B, Manzur, AY, Morton, JEV, Pilch, J, Pollitt, RC, Schreiber, G, Shannon, NL, Sobey, G, Vandersteen, A, van Dijk, FS, Witsch-Baumgartner, M, Zschocke, J, Pope, FM, Bönnemann, CG & Rohrbach, M 2018, '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.', GENETICS IN MEDICINE , vol. 20, no. 1, pp. 42-54. https://doi.org/10.1038/gim.2017.70

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. / Giunta, Cecilia; Baumann, Matthias; Fauth, Christine et al.
In: GENETICS IN MEDICINE , Vol. 20, No. 1, 2018, p. 42-54.

Research output: Contribution to journal › Original Article › peer-review

TY - JOUR

T1 - 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.

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

N1 - Koch: Department of Pediatrics, Paracelsus Medical University Salzburg, Salzburg, Austria

PY - 2018

Y1 - 2018

KW - CONGENITAL MUSCULAR-DYSTROPHY

KW - CONNECTIVE-TISSUE

KW - VASCULAR COMPLICATIONS

KW - DISORDERS

KW - MUSCLE

KW - DISEASES

KW - ULLRICH

KW - PHENOTYPE

KW - OVERLAP

KW - SKIN

U2 - 10.1038/gim.2017.70

DO - 10.1038/gim.2017.70

M3 - Original Article

C2 - 28617417

SN - 1098-3600

VL - 20

SP - 42

EP - 54

JO - GENETICS IN MEDICINE

JF - GENETICS IN MEDICINE

IS - 1

ER -

Giunta C, Baumann M, Fauth C, Lindert U, Abdalla EM, Brady AF et al. 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. GENETICS IN MEDICINE . 2018;20(1):42-54. doi: 10.1038/gim.2017.70