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Paper Details

De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females.
Genet Med
17
2021
HS, Hardikar syndrome, Lujan syndrome, MED12, MED12 variants, MIM 612726, Ohdo syndrome, Opitz-Kaveggia syndrome, X-chromosome, X-chromosome gene, X-chromosome gene MED12, X-linked MED12, biliary anomalies, facial clefting, intellectual disability, intestinal malrotation, intracranial hemorrhage, multiple congenital anomaly syndrome, nonsyndromic intellectual disability, patients, pigmentary retinopathy
Author NameAffiliation
Dong LiCenter for Applied Genomics, The Children's Hospital of Philadelphia
Jaak JaekenUniversity Hospitals and University of Leuven
Elaine H ZackaiThe Children's Hospital of Philadelphia
Arupa GangulyThe Perelman School of Medicine at the University of Pennsylvania
Hakon HakonarsonCenter for Applied Genomics, The Children's Hospital of Philadelphia
Hakon HakonarsonThe Children's Hospital of Philadelphia
Hakon HakonarsonCenter for Applied Genomics, The Children's Hospital of Philadelphia
Hakon HakonarsonThe Children's Hospital of Philadelphia
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