Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia Ehlers-Danlos syndrome

Sandy Ayoub; Neeti Ghali; Chloe Angwin; Duncan Baker; Stella Baffini; Angela F. Brady; Maria Luisa Giovannucci Uzielli; Cecilia Giunta; Diana S. Johnson; Tomoki Kosho; Katherine Neas; F. Michael Pope; Frank Rutsch; Gloria Scarselli; Glenda Sobey; Anthony Vandersteen; Fleur S. van Dijk

doi:10.1002/ajmg.a.61523

Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia Ehlers-Danlos syndrome

Sandy Ayoub, Neeti Ghali, Chloe Angwin, Duncan Baker, Stella Baffini, Angela F. Brady, Maria Luisa Giovannucci Uzielli, Cecilia Giunta, Diana S. Johnson, Tomoki Kosho, Katherine Neas, F. Michael Pope, Frank Rutsch, Gloria Scarselli, Glenda Sobey, Anthony Vandersteen, Fleur S. van Dijk

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

16 Citations (Scopus)

Original language	English
Pages (from-to)	994-1007
Number of pages	14
Journal	American Journal of Medical Genetics, Part A
Volume	182
Issue number	5
DOIs	https://doi.org/10.1002/ajmg.a.61523
Publication status	Published - May 1 2020
Externally published	Yes

ASJC Scopus Subject Areas

Genetics
Genetics(clinical)

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Ayoub, S., Ghali, N., Angwin, C., Baker, D., Baffini, S., Brady, A. F., Giovannucci Uzielli, M. L., Giunta, C., Johnson, D. S., Kosho, T., Neas, K., Pope, F. M., Rutsch, F., Scarselli, G., Sobey, G., Vandersteen, A., & van Dijk, F. S. (2020). Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia Ehlers-Danlos syndrome. American Journal of Medical Genetics, Part A, 182(5), 994-1007. https://doi.org/10.1002/ajmg.a.61523

Ayoub, S, Ghali, N, Angwin, C, Baker, D, Baffini, S, Brady, AF, Giovannucci Uzielli, ML, Giunta, C, Johnson, DS, Kosho, T, Neas, K, Pope, FM, Rutsch, F, Scarselli, G, Sobey, G, Vandersteen, A & van Dijk, FS 2020, 'Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia Ehlers-Danlos syndrome', American Journal of Medical Genetics, Part A, vol. 182, no. 5, pp. 994-1007. https://doi.org/10.1002/ajmg.a.61523

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author = "Sandy Ayoub and Neeti Ghali and Chloe Angwin and Duncan Baker and Stella Baffini and Brady, {Angela F.} and {Giovannucci Uzielli}, {Maria Luisa} and Cecilia Giunta and Johnson, {Diana S.} and Tomoki Kosho and Katherine Neas and Pope, {F. Michael} and Frank Rutsch and Gloria Scarselli and Glenda Sobey and Anthony Vandersteen and {van Dijk}, {Fleur S.}",

note = "Funding Information: We thank all individuals with aEDS for their kind cooperation. We thank Angelika Schwarze and C?line Buerer for expert technical assistance. We also thank Dr Yoko Kishimoto for molecular analysis of patients 9 and 11. Publisher Copyright: {\textcopyright} 2020 Wiley Periodicals, Inc.",

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doi = "10.1002/ajmg.a.61523",

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AU - Ayoub, Sandy

AU - Ghali, Neeti

AU - Angwin, Chloe

AU - Baker, Duncan

AU - Baffini, Stella

AU - Brady, Angela F.

AU - Giovannucci Uzielli, Maria Luisa

AU - Giunta, Cecilia

AU - Johnson, Diana S.

AU - Kosho, Tomoki

AU - Neas, Katherine

AU - Pope, F. Michael

AU - Rutsch, Frank

AU - Scarselli, Gloria

AU - Sobey, Glenda

AU - Vandersteen, Anthony

AU - van Dijk, Fleur S.

N1 - Funding Information: We thank all individuals with aEDS for their kind cooperation. We thank Angelika Schwarze and C?line Buerer for expert technical assistance. We also thank Dr Yoko Kishimoto for molecular analysis of patients 9 and 11. Publisher Copyright: © 2020 Wiley Periodicals, Inc.

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Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia Ehlers-Danlos syndrome

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