Association Between Invisible Basal Ganglia and ZNF335 Mutations: A Case Report.

Abstract excerpt

ZNF335 was first reported in 2012 as a causative gene for microcephaly. Because only 1 consanguineous pedigree has ever been reported, the key clinical features associated with ZNF335 mutations remain unknown. In this article, we describe another family harboring ZNF335 mutations. The female proband was the first child of nonconsanguineous Japanese parents. At birth, microcephaly was absent; her head...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Brain Stem
• Share to Atrophy
• Share to Basal Ganglia