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De Barsy Syndrome: a genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction.
- Source :
-
American journal of medical genetics. Part A [Am J Med Genet A] 2012 Apr; Vol. 158A (4), pp. 927-31. Date of Electronic Publication: 2012 Mar 12. - Publication Year :
- 2012
- Subjects :
- Child
Child, Preschool
Corneal Opacity congenital
Corneal Opacity enzymology
Cutis Laxa enzymology
Cutis Laxa genetics
Female
Humans
Intellectual Disability enzymology
Male
delta-1-Pyrroline-5-Carboxylate Reductase
Corneal Opacity genetics
Cutis Laxa congenital
Intellectual Disability genetics
Pyrroline Carboxylate Reductases genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1552-4833
- Volume :
- 158A
- Issue :
- 4
- Database :
- MEDLINE
- Journal :
- American journal of medical genetics. Part A
- Publication Type :
- Academic Journal
- Accession number :
- 22411858
- Full Text :
- https://doi.org/10.1002/ajmg.a.35231