Solomon, Benjamin D

De novo deletion of chromosome 20q13.33 in a patient with tracheo-esophageal fistula, cardiac defects and genitourinary anomalies implicates GTPBP5 as a candidate gene. [electronic resource] - Birth defects research. Part A, Clinical and molecular teratology Sep 2011 - 862-5 p. digital

Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Intramural

1542-0760

10.1002/bdra.20821 doi


Chromosome Deletion
Chromosomes, Human, Pair 20--genetics
Genitalia, Male--abnormalities
Heart Defects, Congenital--genetics
Humans
Infant, Newborn
Male
Monomeric GTP-Binding Proteins--genetics
Tracheoesophageal Fistula--genetics
Urinary Tract--abnormalities