Original language | Undefined/Unknown |
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Pages (from-to) | 552-563 |
Number of pages | 12 |
Journal | American Journal of Human Genetics |
Volume | 101 |
Issue number | 4 |
DOIs | |
Publication status | Published - Oct 5 2017 |
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Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects. / De Mori, Roberta; Romani, Marta; D'Arrigo, Stefano; Zaki, Maha S.; Lorefice, Elisa; Tardivo, Silvia; Biagini, Tommaso; Stanley, Valentina; Musaev, Damir; Fluss, Joel; Micalizzi, Alessia; Nuovo, Sara; Illi, Barbara; Chiapparini, Luisa; Di Marcotullio, Lucia; Issa, Mahmoud Y.; Anello, Danila; Casella, Antonella; Ginevrino, Monia; Leggins, Autumn Sa'na; Roosing, Susanne; Alfonsi, Romina; Rosati, Jessica; Schot, Rachel; Mancini, Grazia Maria Simonetta; Bertini, Enrico; Dobyns, William B.; Mazza, Tommaso; Gleeson, Joseph G.; Valente, Enza Maria.
In: American Journal of Human Genetics, Vol. 101, No. 4, 05.10.2017, p. 552-563.Research output: Contribution to journal › Article › peer-review
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TY - JOUR
T1 - Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects
AU - De Mori, Roberta
AU - Romani, Marta
AU - D'Arrigo, Stefano
AU - Zaki, Maha S.
AU - Lorefice, Elisa
AU - Tardivo, Silvia
AU - Biagini, Tommaso
AU - Stanley, Valentina
AU - Musaev, Damir
AU - Fluss, Joel
AU - Micalizzi, Alessia
AU - Nuovo, Sara
AU - Illi, Barbara
AU - Chiapparini, Luisa
AU - Di Marcotullio, Lucia
AU - Issa, Mahmoud Y.
AU - Anello, Danila
AU - Casella, Antonella
AU - Ginevrino, Monia
AU - Leggins, Autumn Sa'na
AU - Roosing, Susanne
AU - Alfonsi, Romina
AU - Rosati, Jessica
AU - Schot, Rachel
AU - Mancini, Grazia Maria Simonetta
AU - Bertini, Enrico
AU - Dobyns, William B.
AU - Mazza, Tommaso
AU - Gleeson, Joseph G.
AU - Valente, Enza Maria
PY - 2017/10/5
Y1 - 2017/10/5
U2 - 10.1016/j.ajhg.2017.08.017
DO - 10.1016/j.ajhg.2017.08.017
M3 - Articolo
VL - 101
SP - 552
EP - 563
JO - American Journal of Human Genetics
JF - American Journal of Human Genetics
SN - 0002-9297
IS - 4
ER -