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Demonstration of the recurrence of Marfan-like skeletal and cardiovascular manifestations due to germline mosaicism for an FBN1 mutation.

Gwenaëlle Collod-Béroud 1, * Marilyn Lackmy-Port-Lys 1 Guillaume Jondeau 2 Michèle Mathieu 3 Yves Maingourd 4 Monique Coulon 1 Michel Guillotel 1 Claudine Junien 1, 5 Catherine Boileau 1, 5 
* Corresponding author
1 Génétique, chromosome et cancer
2 Service de cardiologie et maladies vasculaires [CHU Ambroise Paré]
3 Centre de Génétique Clinique, Hôpital Nord
4 Unité de Cardiologie Pédiatrique, Hôpital Nord
5 Service de biochimie, d'hormonologie et de génétique moléculaire [CHU Amrboise Paré]
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https://www.hal.inserm.fr/inserm-00143425
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Submitted on : Wednesday, December 20, 2017 - 6:49:32 PM
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  • HAL Id : inserm-00143425, version 1
  • PUBMED : 10441597

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INSERM | UNIV-PARIS5 | UNIV-PARIS

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Gwenaëlle Collod-Béroud, Marilyn Lackmy-Port-Lys, Guillaume Jondeau, Michèle Mathieu, Yves Maingourd, et al.. Demonstration of the recurrence of Marfan-like skeletal and cardiovascular manifestations due to germline mosaicism for an FBN1 mutation.. American Journal of Human Genetics, Elsevier (Cell Press), 1999, 65 (3), pp.917-21. ⟨inserm-00143425⟩

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