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SPRED1

Wednesday 21 July 2010

Pathology

- germline mutation in Legius syndrome (neurofibromatosis type 1 overlapping phenotype)

References

- SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype. Pasmant E, Sabbagh A, Hanna N, Masliah-Planchon J, Jolly E, Goussard P, Ballerini P, Cartault F, Barbarot S, Landman-Parker J, Soufir N, Parfait B, Vidaud M, Wolkenstein P, Vidaud D, France RN. J Med Genet. 2009 Jul;46(7):425-30. PMID: 19366998