Skip to Main Content

Paper Details

De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome.
Am J Med Genet A
2
2022
Chr1p21, His164Ser, JS, Joubert, Joubert genes, Joubert syndrome, SLC30, SLC30 family, SLC30A7, SLC30A7 (, SLC30A7 variants, Sonic Hedgehog, TCTN3, accessory frenula, ataxia, c, c.490_491delinsAG, ciliopathy, developmental delay, extra oral frenulum, human, macrocephaly, neurodevelopmental delay, neurodevelopmental features, ocular motor apraxia, polydactyly, postaxial polydactyly, primary cilia, renal, or liver disease, unilateral postaxial polydactyly, zinc, zinc transporters
Author NameAffiliation
Jennifer E PoseyBaylor College of Medicine
Zeynep Coban AkdemirBaylor College of Medicine
Zeynep Coban AkdemirSchool of Public Health, The University of Texas Health Science Center at Houston
Dan DohertyUniversity of Washington
James R LupskiBaylor College of Medicine
James R LupskiTexas Children's Hospital
James R LupskiBaylor College of Medicine
James R LupskiBaylor College of Medicine
James R LupskiBaylor College of Medicine
James R LupskiTexas Children's Hospital
James R LupskiBaylor College of Medicine
James R LupskiBaylor College of Medicine
  • 1 - 12

Datasets

Release 1.2