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Your search keyword '"Jourdain, A.‐S."' showing total 1 results
Start Over Author "Jourdain, A.‐S." Topic human abnormalities
1 results on '"Jourdain, A.‐S."'

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

Author

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., and Escande, F.

Subjects
*HUMAN abnormalities, *BONE diseases, *EXTREMITIES (Anatomy), *FAMILIES, *PATIENTS
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. [ABSTRACT FROM AUTHOR]

Published
2014
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