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Paper Details

EGFR mutations cause a lethal syndrome of epithelial dysfunction with progeroid features.
Mol Genet Genomic Med
10
2015
-, EGF, EGFR, EGFR genotype, EGFR mutations, Epidermal growth factor, Gly428Asp, abnormalities in skin and hair, c.1283G>A, children, congenital disease, derived fibroblasts, downstream targets, epidermal growth factor receptor, epithelial dysfunction, homozygous inherited regions, intestinal perforation, multisystem organ failure, of -galactosidase, p.Gly428Asp, patient, prematurely, progeroid features, telomeres, tyrosine, tyrosine kinases
Author NameAffiliation
Laura K ConlinThe University of Pennsylvania Philadelphia
Margaret HarrThe Children's Hospital of Philadelphia Philadelphia
Michael A SimpsonKing's College London London
John A McGrathSt. John's Institute of Dermatology, King's College London London, University of Dundee Dundee
Elaine H ZackaiThe University of Pennsylvania Philadelphia, The Children's Hospital of Philadelphia Philadelphia
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