Article
Kindler syndrome: a new mutation and new diagnostic possibilities.
Archives of dermatology - 1 May 2006
Burch Joanna M, Fassihi Hiva, Jones Catherine A, Mengshol Sarah C, Fitzpatrick James E, McGrath John A
Abstract excerpt
BACKGROUND: Kindler syndrome (KS) is a rare genetic disorder that is characterized by blistering in infancy, followed by the onset of poikiloderma and photosensitivity in childhood. The recently elucidated molecular pathogenesis involves mutations in KIND1, a gene encoding the protein kindlin-1, which is involved in the attachment of the actin cytoskeleton to the extracellular matrix in basal keratinocytes....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.