Ontology highlight
ABSTRACT:
SUBMITTER: Hamanaka K
PROVIDER: S-EPMC6460561 | biostudies-literature | 2019 Mar
REPOSITORIES: biostudies-literature
European journal of human genetics : EJHG 20181128 3
Potocki-Shaffer syndrome (PSS) is a contiguous gene syndrome caused by 11p11.2 deletions. PSS is clinically characterized by intellectual disability, craniofacial anomalies, enlarged parietal foramina, and multiple exostoses. PSS occasionally shows autism spectrum disorder, epilepsy, and overgrowth. Some of the clinical features are thought to be associated with haploinsufficiency of two genes in the 11p11.2 region; variants affecting the function of ALX4 cause enlarged parietal foramina and EXT ...[more]