Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome.

Lin, Dar-Shong

Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome. [electronic resource] - American journal of medical genetics. Part A Dec 2011 - 3095-9 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1552-4833

10.1002/ajmg.a.34326 doi


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