Skip to Main Content

Paper Details

Defect in phosphoinositide signalling through a homozygous variant in <i>PLCB3</i> causes a new form of spondylometaphyseal dysplasia with corneal dystrophy.
J Med Genet
5
2018
Author NameAffiliation
Nara SobreiraInstitute of Genetic Medicine, Johns Hopkins University School of Medicine
David ValleInstitute of Genetic Medicine, Johns Hopkins University School of Medicine
Lihadh Al-GazaliCollege of Medicine and Heath Sciences, United Arab Emirates University
  • 1 - 3

Datasets

Release 1.2