De Barsy syndrome type B presenting with cardiac and genitourinary abnormalities. [electronic resource]
Producer: 20170206Description: 190-1 p. digitalISSN:- 1473-5717
- Alleles
- Corneal Opacity -- diagnosis
- Cutis Laxa -- diagnosis
- Female
- Heart Defects, Congenital -- diagnosis
- Homozygote
- Humans
- Infant, Newborn
- Infant, Premature
- Intellectual Disability -- diagnosis
- Mutation
- Phenotype
- Pyrroline Carboxylate Reductases -- genetics
- Urogenital Abnormalities -- diagnosis
- delta-1-Pyrroline-5-Carboxylate Reductase
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Publication Type: Journal Article
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