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  2. Details for: B3GAT3-related disorder with craniosynostosis and bone fragility due to a unique mutation.
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B3GAT3-related disorder with craniosynostosis and bone fragility due to a unique mutation. [electronic resource]

By:
  • Yauy, Kevin
Contributor(s):
  • 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
Producer: 20180926Description: 269-274 p. digitalISSN:
  • 1530-0366
Subject(s):
  • Bone and Bones -- abnormalities
  • Craniosynostoses -- diagnosis
  • Diagnosis, Differential
  • Genetic Association Studies
  • Genetic Predisposition to Disease
  • Glucuronosyltransferase -- genetics
  • Humans
  • Mutation
  • Phenotype
  • Sequence Analysis, DNA
  • Skull -- abnormalities
  • Syndrome
  • Ultrasonography, Prenatal
  • Whole Genome Sequencing
Online resources:
  • Available from publisher's website
In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 20
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't

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

APA

Yauy K., Tran Mau-Them F., Willems M., Coubes C., Blanchet P., Herlin C., Taleb Arrada I., Sanchez E., Faure J., Le Gac M., Prodhomme O., Boland A., Meyer V., Rivière J., Duffourd Y., Deleuze J., Guignard T., Captier G., Barat-Houari M. & Genevieve D. (20180926). 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.

Chicago

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. 20180926. 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.

Harvard

Yauy K., Tran Mau-Them F., Willems M., Coubes C., Blanchet P., Herlin C., Taleb Arrada I., Sanchez E., Faure J., Le Gac M., Prodhomme O., Boland A., Meyer V., Rivière J., Duffourd Y., Deleuze J., Guignard T., Captier G., Barat-Houari M. and Genevieve D. (20180926). 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.

MLA

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. 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. 20180926.

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