Article
Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome.
Human mutation - 1 Aug 2016
Knaus Alexej, Awaya Tomonari, Helbig Ingo, Afawi Zaid, Pendziwiat Manuela, Abu-Rachma Jubran, Thompson Miles D, Cole David E, Skinner Steve, Annese Fran, Canham Natalie, Schweiger Michal R, Robinson Peter N, Mundlos Stefan, Kinoshita Taroh, Munnich Arnold, Murakami Yoshiko, Horn Denise, Krawitz Peter M
Abstract excerpt
HPMRS or Mabry syndrome is a heterogeneous glycosylphosphatidylinositol (GPI) anchor deficiency that is caused by an impairment of synthesis or maturation of the GPI-anchor. The expressivity of the clinical features in HPMRS varies from severe syndromic forms with multiple organ malformations to mild nonsyndromic intellectual disability. In about half of the patients with the clinical diagnosis of HPMRS,...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.