Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Focal dermal hypoplasia
Introduction
Focal dermal hypoplasia is a form of ectodermal dysplasia.
It is also known as Goltz-Gorlin syndrome, after Robert Goltz and Robert Gorlin.[1]
It has been associated with PORCN, on the X chromosome.[2]
References
References
- ↑ Template:WhoNamedIt
- ↑ Wang X, Reid Sutton V, Omar Peraza-Llanes J; et al. (2007). “Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia”. Nat. Genet. 39 (7): 836–8. doi:10.1038/ng2057. PMID 17546030. Unknown parameter
|month=ignored (help)