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Recessive marfanoid syndrome with herniation associated with a homozygous mutation in Fibulin-3

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https://hal-amu.archives-ouvertes.fr/hal-02550686
Contributor : Valérie Delague <>
Submitted on : Wednesday, April 22, 2020 - 1:44:56 PM
Last modification on : Thursday, April 23, 2020 - 1:42:21 AM

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Sami Bizzari, Lara El-Bazzal, Pratibha Nair, Antoine Younan, Samantha Stora, et al.. Recessive marfanoid syndrome with herniation associated with a homozygous mutation in Fibulin-3. European Journal of Medical Genetics, Elsevier, 2020, 63 (5), pp.103869. ⟨10.1016/j.ejmg.2020.103869⟩. ⟨hal-02550686⟩

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