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