Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome. [electronic resource]
Producer: 20120430Description: 3095-9 p. digitalISSN:- 1552-4833
- Abnormalities, Multiple -- genetics
- Base Sequence
- Child
- Child, Preschool
- Corneal Opacity -- diagnosis
- Cutis Laxa -- diagnosis
- Exons
- Gene Expression
- Heterozygote
- Humans
- Intellectual Disability -- diagnosis
- Male
- Mutation
- Phenotype
- Pyrroline Carboxylate Reductases -- genetics
- delta-1-Pyrroline-5-Carboxylate Reductase
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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