B3GAT3-related disorder with craniosynostosis and bone fragility due to a unique mutation
B3GAT3-related disorder with craniosynostosis and bone fragility due to a unique mutation
About this item
Full title
Author / Creator
Yauy, Kevin , Tran Mau-Them, Frederic , Willems, Marjolaine , Coubes, Christine , Blanchet, Patricia , Herlin, Christian , Taleb Arrada, Ikram , Sanchez, Elodie , Faure, Jean-Michel , Le Gac, Marie-Pascale , Prodhomme, Olivier , Boland, Anne , Meyer, Vincent , Rivière, Jean-Baptiste , Duffourd, Yannis , Deleuze, Jean-François , Guignard, Thomas , Captier, Guillaume , Barat-Houari, Mouna and Genevieve, David
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
Formats
Publication information
Publisher
New York: Nature Publishing Group US
Subjects
More information
Scope and Contents
Contents
Purpose
Based on prenatal suspicion of the combination of radioulnar or radiohumeral synostosis and a peculiar shape of the skull suggestive of craniosynostosis, we report on six patients from four unrelated consanguineous families in whom Antley-Bixler syndrome was suspected during the prenatal period without mutation in genes known to be assoc...
Alternative Titles
Full title
B3GAT3-related disorder with craniosynostosis and bone fragility due to a unique mutation
Authors, Artists and Contributors
Author / Creator
Tran Mau-Them, Frederic
Willems, Marjolaine
Coubes, Christine
Blanchet, Patricia
Herlin, Christian
Taleb Arrada, Ikram
Sanchez, Elodie
Faure, Jean-Michel
Le Gac, Marie-Pascale
Prodhomme, Olivier
Boland, Anne
Meyer, Vincent
Rivière, Jean-Baptiste
Duffourd, Yannis
Deleuze, Jean-François
Guignard, Thomas
Captier, Guillaume
Barat-Houari, Mouna
Genevieve, David
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_hal_primary_oai_HAL_hal_01634463v1
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_hal_primary_oai_HAL_hal_01634463v1
Other Identifiers
ISSN
1098-3600
E-ISSN
1530-0366
DOI
10.1038/gim.2017.109
