Matthew G Sampson

Summary

Affiliation: The Children's Hospital of Philadelphia
Country: USA

Publications

  1. doi request reprint Evidence for a recurrent microdeletion at chromosome 16p11.2 associated with congenital anomalies of the kidney and urinary tract (CAKUT) and Hirschsprung disease
    Matthew G Sampson
    Division of Pediatric Nephrology, The Children s Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
    Am J Med Genet A 152:2618-22. 2010

Detail Information

Publications1

  1. doi request reprint Evidence for a recurrent microdeletion at chromosome 16p11.2 associated with congenital anomalies of the kidney and urinary tract (CAKUT) and Hirschsprung disease
    Matthew G Sampson
    Division of Pediatric Nephrology, The Children s Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
    Am J Med Genet A 152:2618-22. 2010
    ..Our findings suggest that 16p11.2 deletions are associated with abnormalities of renal and enteric development and we hypothesize that deletion of SH2B1 may account for the observed phenotype...