Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): Clinical, molecular and biochemical delineation

Marianne Rohrbach; Anthony Vandersteen; Uluç Yi; Gul Serdaroglu; Esra Ataman; Maya Chopra; Sixto Garcia; Kristi Jones; Ariana Kariminejad; Marius Kraenzlin; Carlo Marcelis; Matthias Baumgartner; Cecilia Giunta

doi:10.1186/1750-1172-6-46

Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): Clinical, molecular and biochemical delineation

Marianne Rohrbach, Anthony Vandersteen, Uluç Yi, Gul Serdaroglu, Esra Ataman, Maya Chopra, Sixto Garcia, Kristi Jones, Ariana Kariminejad, Marius Kraenzlin, Carlo Marcelis, Matthias Baumgartner, Cecilia Giunta

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

83 Citations (Scopus)

Original language	English
Article number	46
Journal	Orphanet Journal of Rare Diseases
Volume	6
Issue number	1
DOIs	https://doi.org/10.1186/1750-1172-6-46
Publication status	Published - 2011
Externally published	Yes

ASJC Scopus Subject Areas

Genetics(clinical)
Pharmacology (medical)

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Rohrbach, M., Vandersteen, A., Yi, U., Serdaroglu, G., Ataman, E., Chopra, M., Garcia, S., Jones, K., Kariminejad, A., Kraenzlin, M., Marcelis, C., Baumgartner, M., & Giunta, C. (2011). Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): Clinical, molecular and biochemical delineation. Orphanet Journal of Rare Diseases, 6(1), Article 46. https://doi.org/10.1186/1750-1172-6-46

Rohrbach, M, Vandersteen, A, Yi, U, Serdaroglu, G, Ataman, E, Chopra, M, Garcia, S, Jones, K, Kariminejad, A, Kraenzlin, M, Marcelis, C, Baumgartner, M & Giunta, C 2011, 'Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): Clinical, molecular and biochemical delineation', Orphanet Journal of Rare Diseases, vol. 6, no. 1, 46. https://doi.org/10.1186/1750-1172-6-46

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AU - Yi, Uluç

AU - Serdaroglu, Gul

AU - Ataman, Esra

AU - Chopra, Maya

AU - Garcia, Sixto

AU - Jones, Kristi

AU - Kariminejad, Ariana

AU - Kraenzlin, Marius

AU - Marcelis, Carlo

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AU - Giunta, Cecilia

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Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): Clinical, molecular and biochemical delineation

ASJC Scopus Subject Areas

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