A synonymous splicing mutation in the SF3B4 gene segregates in a family with highly variable Nager syndrome.

Name: A synonymous splicing mutation in the SF3B4 gene segregates in a family with highly variable Nager syndrome.
Author: Cassina, Matteo

A synonymous splicing mutation in the SF3B4 gene segregates in a family with highly variable Nager syndrome. — المؤلف: Cassina, Matteo — European journal of human genetics : EJHG 20170807

المؤلف: Cassina, Matteo
النشر: European journal of human genetics : EJHG 20170807
الوصف: 371-375 p.
الموضوعات: Adult؛ Child, Preschool؛ Female؛ Humans؛ Male؛ Mandibulofacial Dysostosis؛ Mutation؛ Pedigree