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Article

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

Clinical genetics - 1 May 2014

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

Abstract excerpt

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...

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Identifiers

PMID: 23790188
DOI: 10.1111/cge.12219

Genes

BHLHA9

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