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Paper Details

Exome survey of individuals affected by VATER/VACTERL with renal phenotypes identifies phenocopies and novel candidate genes.
Am J Med Genet A
6
2021
A, ACOT9, ARM), B9D1, FGF8, FOXF1, FREM1, HOXD13, LPP, PTEN, SP8, TE, TRAP1, TTLL11, V, VACTERL, VACTERL disease, VACTERL-like, VATER, VATER/, VATER/VACTERL disease, VATER/VACTERL disease genes, X-chromosomal hemizygous, ZIC3, ZNF157, anorectal malformations, cardiac anomalies, esophageal atresia, human, novel candidate genes, renal malformations, tracheoesophageal fistula, vertebral defects
Author NameAffiliation
Heidi L RehmBroad Institute of Massachusetts Institute of Technology and Harvard
Heidi L RehmBroad Institute of Massachusetts Institute of Technology and Harvard
Shrikant ManeYale University School of Medicine
Shrikant ManeYale Center for Mendelian Genomics, Yale University School of Medicine
Richard P LiftonYale University School of Medicine
Richard P LiftonYale Center for Mendelian Genomics, Yale University School of Medicine
Richard P LiftonYale University School of Medicine
Richard P LiftonYale Center for Mendelian Genomics, Yale University School of Medicine
Friedhelm HildebrandtBoston Children's Hospital, Harvard Medical School
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