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Journal articles
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
Gwenaëlle Collod-Béroud 1
Correspondent author IdHAL : gwenaelle-collod-beroud ResearcherId : http://www.researcherid.com/rid/A-8342-2008 ORCID : https://orcid.org/0000-0003-4098-6161
Marilyn Lackmy-Port-Lys 1
Author
Guillaume Jondeau 2
Author
Michèle Mathieu 3
Author
Yves Maingourd 4
Author
Monique Coulon 1
Author
Michel Guillotel 1
Author
Claudine Junien 1, 5
Author
Catherine Boileau 1, 5
Author
1
Génétique, chromosome et cancer (Gh Necker - Enfants Malades 149, Rue de Sevres 75743 PARIS CEDEX 15 - France)
- UPD5 - Université Paris Descartes - Paris 5 (12, rue de l'École de Médecine - 75270 Paris cedex 06 - France)
- INSERM - Institut National de la Santé et de la Recherche Médicale : U383 (101, rue de Tolbiac, 75013 Paris - France)
2
Service de cardiologie et maladies vasculaires [CHU Ambroise Paré] (9, avenue Charles-de-Gaulle 92100 Boulogne-Billancourt - France)
- AP-HP - Assistance publique - Hôpitaux de Paris (AP-HP) (France)
- Hôpital Ambroise Paré [AP-HP] (9, avenue Charles de Gaulle92104 Boulogne-Billancourt cedex - France)
3
Centre de Génétique Clinique, Hôpital Nord (place Victor Pauchet, 80054 Amiens cedex 1 - France)
- CHU Amiens-Picardie (France)
4
Unité de Cardiologie Pédiatrique, Hôpital Nord (place Victor Pauchet, 80054 Amiens cedex 1 - France)
- CHU Amiens-Picardie (France)
5
Service de biochimie, d'hormonologie et de génétique moléculaire [CHU Amrboise Paré] (9, avenue Charles-de-Gaulle 92100 Boulogne-Billancourt - France)
- AP-HP - Assistance publique - Hôpitaux de Paris (AP-HP) (France)
- Hôpital Ambroise Paré [AP-HP] (9, avenue Charles de Gaulle92104 Boulogne-Billancourt cedex - France)
Document type :
Journal articles
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https://www.hal.inserm.fr/inserm-00143425
Contributor : Gwenaëlle Collod-Beroud Connect in order to contact the contributor
Submitted on : Wednesday, December 20, 2017 - 6:49:32 PM
Last modification on : Wednesday, August 19, 2020 - 11:17:32 AM
Contributor : Gwenaëlle Collod-Beroud Connect in order to contact the contributor
Submitted on : Wednesday, December 20, 2017 - 6:49:32 PM
Last modification on : Wednesday, August 19, 2020 - 11:17:32 AM
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Identifiers
- HAL Id : inserm-00143425, version 1
- PUBMED : 10441597
Collections
INSERM | UNIV-PARIS5 | USPC | UNIV-PARIS
Citation
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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