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5. Mutation of the gene encoding fibrillin-2 results in syndactyly in mice. Chaudhry SS; Gazzard J; Baldock C; Dixon J; Rock MJ; Skinner GC; Steel KP; Kielty CM; Dixon MJ Hum Mol Genet; 2001 Apr; 10(8):835-43. PubMed ID: 11285249 [TBL] [Abstract][Full Text] [Related]
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13. Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. Le Goff C; Mahaut C; Wang LW; Allali S; Abhyankar A; Jensen S; Zylberberg L; Collod-Beroud G; Bonnet D; Alanay Y; Brady AF; Cordier MP; Devriendt K; Genevieve D; Kiper PÖ; Kitoh H; Krakow D; Lynch SA; Le Merrer M; Mégarbane A; Mortier G; Odent S; Polak M; Rohrbach M; Sillence D; Stolte-Dijkstra I; Superti-Furga A; Rimoin DL; Topouchian V; Unger S; Zabel B; Bole-Feysot C; Nitschke P; Handford P; Casanova JL; Boileau C; Apte SS; Munnich A; Cormier-Daire V Am J Hum Genet; 2011 Jul; 89(1):7-14. PubMed ID: 21683322 [TBL] [Abstract][Full Text] [Related]
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