Article
A novel mutation in the PORCN gene underlying a case of almost unilateral focal dermal hypoplasia.
Archives of dermatology - 1 Jan 2012
Maalouf Diane, Mégarbané Hala, Chouery Eliane, Nasr Joanna, Badens Catherine, Lacoste Caroline, Grzeschik Karl-Heinz, Mégarbané André
Abstract excerpt
BACKGROUND: Focal dermal hypoplasia (also known as Goltz syndrome) is an X-linked dominant syndrome characterized by patchy hypoplastic skin with soft-tissue, skeletal, dental, and ocular defects that are secondary to mutations in the PORCN gene. To our knowledge, only 5 cases of focal dermal hypoplasia with unilateral presentation have been reported, and molecular studies were not performed in any of the cases....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.