Skip to Main Content

Paper Details

De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females.
Genet Med
17
2021
C, ID, MED12, Mediator multiprotein complex, NDD, NDDs, Ohdo, Lujan, and FG syndromes, PURPOSE MED12, RNA polymerase II, X-linked syndromic neurodevelopmental disorders, autistic features, exon 8 splice acceptor site, facial dysmorphism, gene, intellectual disability, limited speech, missense variants, neurodevelopmental disorders, short stature, skeletal abnormalities, syndromic
Author NameAffiliation
Charu DeshpandeGuy's Hospital
Anneke T Vulto-van SilfhoutRadboud University Medical Center
Hakon HakonarsonChildren's Hospital of Philadelphia
Hakon HakonarsonChildren's Hospital of Philadelphia
Siddharth BankaUniversity of Manchester, St Mary's Hospital
Siddharth BankaUniversity of Manchester
Bert B A de VriesRadboud University Medical Center
Elaine H ZackaiChildren's Hospital of Philadelphia
Nicola K RaggeInternational Centre for Eye Health, London School of Hygiene and Tropical Medicine
Sally Ann LynchUniversity College Dublin, and Clinical Genetics, Temple Street Children's University Hospital
  • 1 - 10

Datasets

Release 1.2