Publications:

A microfibril assembly assay identifies different mechanisms of dominance underlying Marfan syndrome, stiff skin syndrome and acromelic dysplasias.

Human Molecular Genetics

Jensen, Sacha A SA; Iqbal, Sarah S; Bulsiewicz, Alicja A; Handford, Penny A PA

Publication Date: 2015-08-01

Variant appearance in text: FBN1: Y1699D

PubMed Link: 25979247

Variant Present in the following documents:

• Main text
• ddv181.pdf

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Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.

American Journal Of Human Genetics

Le Goff, Carine C; Mahaut, Clémentine C; Wang, Lauren W LW; Allali, Slimane S; Abhyankar, Avinash A; Jensen, Sacha S; Zylberberg, Louise L; Collod-Beroud, Gwenaelle G; Bonnet, Damien D; Alanay, Yasemin Y; Brady, Angela F AF; Cordier, Marie-Pierre MP; Devriendt, Koen K; Genevieve, David D; Kiper, Pelin Özlem Simsek PÖ; Kitoh, Hiroshi H; Krakow, Deborah D; Lynch, Sally Ann SA; Le Merrer, Martine M; Mégarbane, André A; Mortier, Geert G; Odent, Sylvie S; Polak, Michel M; Rohrbach, Marianne M; Sillence, David D; Stolte-Dijkstra, Irene I; Superti-Furga, Andrea A; Rimoin, David L DL; Topouchian, Vicken V; Unger, Sheila S; Zabel, Bernhard B; Bole-Feysot, Christine C; Nitschke, Patrick P; Handford, Penny P; Casanova, Jean-Laurent JL; Boileau, Catherine C; Apte, Suneel S SS; Munnich, Arnold A; Cormier-Daire, Valérie V

Publication Date: 2011-07-15

Variant appearance in text: FBN1: 5095T>G

PubMed Link: 21683322

Variant Present in the following documents:

• Main text

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