title: De Barsy syndrome type B presenting with cardiac and genitourinary abnormalities.
authors.affiliation: Departments of aClinical Genetics bNeonatology, Christian Medical College, Vellore, India.
authors.forename: Atanu K
authors.initials: AK
authors.lastname: Dutta
authors.forename: Alka V
authors.initials: AV
authors.lastname: Ekbote
authors.forename: Niranjan
authors.initials: N
authors.lastname: Thomas
authors.forename: Sabitha
authors.initials: S
authors.lastname: Omprakash
authors.forename: Sumita
authors.initials: S
authors.lastname: Danda
mesh_terms: D000483:Alleles; D003318:Corneal Opacity / Q000175:diagnosis* / Q000235:genetics; D003483:Cutis Laxa / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D006330:Heart Defects, Congenital / Q000175:diagnosis*; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D007234:Infant, Premature; D008607:Intellectual Disability / Q000175:diagnosis* / Q000235:genetics; D009154:Mutation; D010641:Phenotype; D011762:Pyrroline Carboxylate Reductases / Q000235:genetics; D014564:Urogenital Abnormalities / Q000175:diagnosis*; D000097502:delta-1-Pyrroline-5-Carboxylate Reductase
chemical_list: D011762:Pyrroline Carboxylate Reductases; D000097502:delta-1-Pyrroline-5-Carboxylate Reductase