Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia.

Grzeschik, Karl-Heinz

Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia. [electronic resource] - Nature genetics Jul 2007 - 833-5 p. digital

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

1061-4036

10.1038/ng2052 doi


Acyltransferases
Adolescent
Adult
Child
Female
Focal Dermal Hypoplasia--enzymology
Humans
Male
Membrane Proteins--deficiency
Middle Aged
Pedigree
Signal Transduction--genetics
Wnt Proteins--metabolism