B3GAT3-related disorder with craniosynostosis and bone fragility due to a unique mutation.

doi:10.1038/gim.2017.109

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Article

B3GAT3-related disorder with craniosynostosis and bone fragility due to a unique mutation.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Feb 2018

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, Genevieve David

Abstract excerpt

PurposeBased 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 associated with the syndrome.MethodsMolecular diagnosis involved...

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PMID: 28771243
DOI: 10.1038/gim.2017.109

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B3GAT3

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