About: Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndrome

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About: Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndrome Goto Sponge NotDistinct Permalink

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Author	Hanna, Nadine (1977-...) Naudion, Sophie (1980-....) Lacombe, Didier (19..-....) Aubart, Mélodie (1983-.... ; neuropédiatre) Boileau, Catherine Jondeau, Guillaume (19..-.... ; médecin) Edouard, Thomas (1973-.... ; chercheur en médecine) Collod, Gwenaëlle (1969-....) Olivier-Faivre, Laurence (1957-....) Odent, Sylvie Milleron, Olivier (1972-.... ; médecin) Arnaud, Pauline (1986-....) Dupuis-Girod, Sophie Gouya, Laurent (19..-....)
Bibliographic Citation	Arnaud Pauline, Hanna Nadine, Aubart Mélodie, Leheup Bruno, Dupuis-Girod Sophie, Naudion Sophie, Lacombe Didier, Milleron Olivier, Odent Sylvie, Faivre Laurence, Bal Laurence, Edouard Thomas, Collod-Béroud Gwenaëlle, Langeois Maud, Spentchian Myrtille, Gouya Laurent, Jondeau Guillaume, Boileau Catherine. Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndrome. Journal of Medical Genetics, BMJ Publishing Group, 2017, 54 (2), pp.100 - 103. ⟨10.1136/jmedgenet-2016-103996⟩ ArnaudPauline, HannaNadine, AubartMélodie, LeheupBruno, Dupuis-GirodSophie, NaudionSophie, LacombeDidier, MilleronOlivier, OdentSylvie, FaivreLaurence, BalLaurence, EdouardThomas, Collod-BéroudGwenaëlle, LangeoisMaud, SpentchianMyrtille, GouyaLaurent, JondeauGuillaume, BoileauCatherine . Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndrome . Journal of Medical Genetics, 2017, 54 (2), pp.100 - 103 . ⟨10.1136/jmedgenet-2016-103996⟩ Arnaud Pauline, Hanna Nadine, Aubart Mélodie, Leheup Bruno, Dupuis-Girod Sophie, Naudion Sophie, Lacombe Didier, Milleron Olivier, Odent Sylvie, Faivre Laurence, Bal Laurence, Edouard Thomas, Collod-Béroud Gwenaëlle, Langeois Maud, Spentchian Myrtille, Gouya Laurent, Jondeau Guillaume, Boileau Catherine. Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndrome. Journal of Medical Genetics, 2017, 54 (2), pp.100 - 103. ⟨10.1136/jmedgenet-2016-103996⟩
Title	Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndrome
dc:date	2017
Digital Object Identifier (DOI)	10.1136/jmedgenet-2016-103996

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