Deletion of Porcn in Mice Leads to Multiple Developmental Defects and Models Human Focal Dermal Hypoplasia (Goltz Syndrome)

@inproceedings{Liu2012DeletionOP,
  title={Deletion of Porcn in Mice Leads to Multiple Developmental Defects and Models Human Focal Dermal Hypoplasia (Goltz Syndrome)},
  author={Wei Liu and Timothy M. Shaver and Alfr{\'e}d Balasa and M. Cecilia Ljungberg and Xiaoling Wang and Shu Wen and Hoang K. Nguyen and Ignatia B. van den Veyver},
  booktitle={PloS one},
  year={2012}
}
BACKGROUND Focal Dermal Hypoplasia (FDH) is a genetic disorder characterized by developmental defects in skin, skeleton and ectodermal appendages. FDH is caused by dominant loss-of-function mutations in X-linked PORCN. PORCN orthologues in Drosophila and mice encode endoplasmic reticulum proteins required for secretion and function of Wnt proteins. Wnt… CONTINUE READING