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. 2014 May;85(5):464-9.
doi: 10.1111/cge.12219. Epub 2013 Jul 15.

Split hand/foot malformation with long-bone deficiency and BHLHA9 duplication: report of 13 new families

F Petit  1 , A-S Jourdain, J Andrieux, G Baujat, C Baumann, C Beneteau, A David, L Faivre, D Gaillard, B Gilbert-Dussardier, P-S Jouk, C Le Caignec, P Loget, L Pasquier, N Porchet, M Holder-Espinasse, S Manouvrier-Hanu, F Escande
Affiliations

Split hand/foot malformation with long-bone deficiency and BHLHA9 duplication: report of 13 new families

F Petit et al. Clin Genet. 2014 May.

Abstract

Split hand/foot malformation (SHFM) with long-bone deficiency (SHFLD, MIM#119100) is a rare condition characterized by SHFM associated with long-bone malformation usually involving the tibia. Previous published data reported several unrelated patients with 17p13.3 duplication and SHFLD. Recently, the minimal critical region had been reduced, suggesting that BHLHA9 copy number gains are associated with this limb defect. Here, we report on 13 new families presenting with ectrodactyly and harboring a BHLHA9 duplication.

Keywords: 17p13.3 duplication; BHLHA9; SHFLD; SHFM; ectrodactyly.

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