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

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16 引用（Scopus）

源语言	英语
页（从-至）	994-1007
页数	14
期刊	American Journal of Medical Genetics, Part A
卷	182
期	5
DOI	https://doi.org/10.1002/ajmg.a.61523
出版状态	已出版 - 5月 1 2020
已对外发布	是

!!!ASJC Scopus Subject Areas

遗传学
遗传学（临床）

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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, 卷 182, 号码 5, 页码 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.",

year = "2020",

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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

!!!ASJC Scopus Subject Areas

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