Concepedia

20 novel point mutations and one large deletion in EXT1 and EXT2 genes: Report of diagnostic screening in a large Italian cohort of patients affected by hereditary multiple exostosis

Michele Ciavarella, Michelina Coco, Filomena Baorda, Pietro Stanziale, Massimiliano Chetta, Luigi Bisceglia, Pietro Palumbo, Mario Bengala, Paola Raiteri, Margherita Silengo,

Gene · 2012 · 29 citations · 16 references

DOI

Concepts

References

16

The natural history of hereditary multiple exostoses.

Gregory A. Schmale, E U Conrad, Wendy H. Raskind · Journal of Bone and Joint Surgery · 1994 · 618 citations

, , +16

Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1)

Jung Ahn, Hermann‐Josef Lüdecke, Steffi Lindow et al. · Nature Genetics · 1995 · 428 citations

, , +6

The EXT2 multiple exostoses gene defines a family of putative tumour suppressor genes

Dominique Stickens, Gregory A. Clines, David G. Burbee et al. · Nature Genetics · 1996 · 339 citations

, , +8

Natural history study of hereditary multiple exostoses

C. Luckert Wicklund, Richard M. Pauli, D. Johnston et al. · American Journal of Medical Genetics · 1995 · 316 citations

, , +17

Hereditary multiple exostoses.

Raoul C. M. Hennekam · Journal of Medical Genetics · 1991 · 308 citations · Full text