Article
Occipital horn syndrome and classical Menkes Syndrome caused by deep intronic mutations, leading to the activation of ATP7A pseudo-exon.
European journal of human genetics : EJHG - 1 Apr 2014
Yasmeen Saiqa, Lund Katrine, De Paepe Anne, De Bie Sylvia, Heiberg Arvid, Silva João, Martins Márcia, Skjørringe Tina, Møller Lisbeth B
Abstract excerpt
Menkes disease is an X-linked disorder of copper metabolism caused by mutations in the ATP7A gene. Whereas most of the patients exhibit a severe classical form, about 9% of the patients exhibit a milder form of Menkes disease. The mildest form is called occipital horn syndrome (OHS). Mutations in the ATP7A gene can be identified in 95-98% of the Menkes disease patients by standard screening techniques....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.