Three novel mutations in the PORCN gene underlying focal dermal hypoplasia
- 4 March 2008
- journal article
- case report
- Published by Wiley in Clinical Genetics
- Vol. 73 (4), 373-379
- https://doi.org/10.1111/j.1399-0004.2008.00975.x
Abstract
No abstract availableKeywords
This publication has 7 references indexed in Scilit:
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- Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasiaNature Genetics, 2007
- Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasiaNature Genetics, 2007
- Three cases of focal dermal hypoplasia (Goltz syndrome)Clinical and Experimental Dermatology, 2005
- The evolutionarily conserved porcupine gene family is involved in the processing of the Wnt familyEuropean Journal of Biochemistry, 2000
- A superfamily of membrane-bound O -acyltransferases with implications for Wnt signalingTrends in Biochemical Sciences, 2000
- Focal Dermal Hypoplasia SyndromeArchives of Dermatology, 1992