Jaeken, Jaak

Clinical utility gene card for: Peters plus syndrome. [electronic resource] - European journal of human genetics : EJHG 08 2016

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

1476-5438

10.1038/ejhg.2016.32 doi


Abnormalities, Multiple--diagnosis
Cleft Lip--diagnosis
Cornea--abnormalities
DNA Mutational Analysis--methods
Diagnosis, Differential
Galactosyltransferases--genetics
Genetic Predisposition to Disease--genetics
Glucosyltransferases--genetics
Growth Disorders--diagnosis
Humans
Limb Deformities, Congenital--diagnosis
Mutation
Syndrome