Výsledky vyhledávání - "Autumn Sa'na Leggins"

Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects

Autor: Antonella Casella, Jessica Rosati, Joel Victor Fluss, Roberta De Mori, Susanne Roosing, Barbara Illi, Danila Anello, Tommaso Biagini, Joseph G. Gleeson, Damir Musaev, Enrico Bertini, Tommaso Mazza, Enza Maria Valente, Rachel Schot, Valentina Stanley, Stefano D'Arrigo, Marta Romani, Maha S. Zaki, Silvia Tardivo, Sara Nuovo, Monia Ginevrino, Romina Alfonsi, Luisa Chiapparini, William B. Dobyns, G.M.S. Mancini, Mahmoud Y. Issa, Elisa Lorefice, Lucia Di Marcotullio, Alessia Micalizzi, Autumn Sa'na Leggins

Publikováno v: American journal of human genetics 101 (2017): 552–563. doi:10.1016/j.ajhg.2017.08.017
info:cnr-pdr/source/autori:De Mori R.; Romani M.; D'Arrigo S.; Zaki M.S.; Lorefice E.; Tardivo S.; Biagini T.; Stanley V.; Musaev D.; Fluss J.; Micalizzi A.; Nuovo S.; Illi B.; Chiapparini L.; Di Marcotullio L.; Issa M.Y.; Anello D.; Casella A.; Ginevrino M.; Leggins A.S.; Roosing S.; Alfonsi R.; Rosati J.; Schot R.; Mancini G.M.S.; Bertini E.; Dobyns W.B.; Mazza T.; Gleeson J.G.; Valente E.M./titolo:Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects/doi:10.1016%2Fj.ajhg.2017.08.017/rivista:American journal of human genetics/anno:2017/pagina_da:552/pagina_a:563/intervallo_pagine:552–563/volume:101
American Journal of Human Genetics, 101(4), 552-563. Cell Press
American Journal of Human Genetics, 101, 552-563
American Journal of Human Genetics, Vol. 101, No 4 (2017) pp. 552-563
American Journal of Human Genetics, 101, 4, pp. 552-563

The Sonic Hedgehog (SHH) pathway is a key signaling pathway orchestrating embryonic development, mainly of the CNS and limbs. In vertebrates, SHH signaling is mediated by the primary cilium, and genetic defects affecting either SHH pathway members or

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