Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome

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https://hal.univ-lorraine.fr/hal-01838313
Contributor : Sandrine Gulberti <>
Submitted on : Friday, July 13, 2018 - 11:33:39 AM
Last modification on : Thursday, July 25, 2019 - 2:24:03 PM

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Tim van Damme, Xiaomeng Pang, Brecht Guillemyn, Sandrine Gulberti, Delfien Syx, et al.. Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome. Human Molecular Genetics, Oxford University Press (OUP), 2018, 27 (20), pp.3475-3487. ⟨10.1093/hmg/ddy234⟩. ⟨hal-01838313⟩

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