Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects. (Q46233034)
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scientific article published on 27 September 2017
Language | Label | Description | Also known as |
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English | Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects. |
scientific article published on 27 September 2017 |
Statements
Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects (English)
William B Dobyns
Valentina Stanley
Barbara Illi
Marta Romani
Damir Musaev
Stefano D'Arrigo
Elisa Lorefice
Tommaso Biagini
Joel Fluss
Luisa Chiapparini
Lucia Di Marcotullio
Danila Anello
Antonella Casella
Autumn Sa'na Leggins
Rachel Schot
Grazia Maria Simonetta Mancini
Joseph G Gleeson
28 September 2017