Mutation Update for the PORCN Gene

Autor: Jacopo Celli, Marcel A. M. M. Mannens, Maria Paola Lombardi, Michael T. Gabbett, Jasper J. van der Smagt, Lillian Bomme Ousager, Raoul C.M. Hennekam, Saskia Bulk, Maria Soller, Robert Smigiel, Eva-Lena Stattin, AK Lampe

Publikováno v: Human Mutation
Human Mutation, Wiley, 2011, 32 (7), pp.723. ⟨10.1002/humu.21505⟩
Human mutation, 32(7), 723-728. Wiley-Liss Inc.
Lombardi, M P, Bulk, S, Celli, J, Lampe, A, Gabbett, M T, Ousager, L B, van der Smagt, J J, Soller, M, Stattin, E-L, Mannens, M A M M, Smigiel, R & Hennekam, R C 2011, ' Mutation update for the PORCN gene ', Human Mutation, vol. 32, no. 7, pp. 723-8 . https://doi.org/10.1002/humu.21505
Human Mutation; Vol 32

International audience; Mutations in the PORCN gene were first identified in Goltz-Gorlin syndrome patients in 2007. Since then several reports have been published describing a large variety of genetic defects resulting in the Goltz-Gorlin syndrome,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e86b3508bceb0ceb9f10ff7ebbc17556
https://hal.archives-ouvertes.fr/hal-00654141/file/PEER_stage2_10.1002%2Fhumu.21505.pdf