Novel imaging and clinical phenotypes of CONDSIAS disorder caused by a homozygous frameshift variant of ADPRHL2: a case report

by Hajar Aryan, Ehsan Razmara, Dariush Farhud, Marjan Zarif-Yeganeh, Shaghayegh Zokaei, Seyed Abbas Hassani, Mahmoud Reza Ashrafi, Masoud Garshasbi, Ali Reza Tavasoli
Published 2020-08-01