Clinical utility gene card for: Peters plus syndrome

Eur J Hum Genet. 2016 Aug;24(8). doi: 10.1038/ejhg.2016.32. Epub 2016 Apr 6.

Authors

Jaak Jaeken¹, Dirk J Lefeber², Gert Matthijs³

Affiliations

¹ Centre for Metabolic Disease, Department of Pediatrics, University Hospital Gasthuisberg, KU Leuven, Leuven, Belgium.
² Department of Neurology, Translational Metabolic Laboratory, Radboudumc, Nijmegen, The Netherlands.
³ Centre for Human Genetics, KU Leuven, Leuven, Belgium.

No abstract available

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

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

Substances

B3GLCT protein, human
Galactosyltransferases
Glucosyltransferases

Supplementary concepts

Krause-Kivlin syndrome