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De Barsy syndrome type B presenting with cardiac and genitourinary abnormalities.
- Source :
-
Clinical dysmorphology [Clin Dysmorphol] 2016 Oct; Vol. 25 (4), pp. 190-1. - Publication Year :
- 2016
- Subjects :
- Alleles
Corneal Opacity genetics
Cutis Laxa genetics
Female
Homozygote
Humans
Infant, Newborn
Infant, Premature
Intellectual Disability genetics
Mutation
Pyrroline Carboxylate Reductases genetics
delta-1-Pyrroline-5-Carboxylate Reductase
Corneal Opacity diagnosis
Cutis Laxa diagnosis
Heart Defects, Congenital diagnosis
Intellectual Disability diagnosis
Phenotype
Urogenital Abnormalities diagnosis
Subjects
Details
- Language :
- English
- ISSN :
- 1473-5717
- Volume :
- 25
- Issue :
- 4
- Database :
- MEDLINE
- Journal :
- Clinical dysmorphology
- Publication Type :
- Academic Journal
- Accession number :
- 27379772
- Full Text :
- https://doi.org/10.1097/MCD.0000000000000142