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Two novel GJA1 variants in oculodentodigital dysplasia.

Nikolai Paul PaceValerie BenoitDavid AgiusMaria Angela GrimaRaymond ParascandaloPascale HilbertIsabella Borg
Published in: Molecular genetics & genomic medicine (2019)
This report further expands the mutational spectrum of ODDD.
Keyphrases
  • copy number
  • gene expression
  • genome wide