Ontology highlight
ABSTRACT:
SUBMITTER: Trajkova S
PROVIDER: S-EPMC7693731 | biostudies-literature | 2020 Oct
REPOSITORIES: biostudies-literature
Trajkova Slavica S Di Gregorio Eleonora E Ferrero Giovanni Battista GB Carli Diana D Pavinato Lisa L Delplancq Geoffroy G Kuentz Paul P Brusco Alfredo A
Brain sciences 20201028 11
Potocki-Shaffer syndrome (PSS) is a rare non-recurrent contiguous gene deletion syndrome involving chromosome 11p11.2. Current literature implies a minimal region with haploinsufficiency of three genes, <i>ALX4</i> (parietal foramina), <i>EXT2</i> (multiple exostoses), and <i>PHF21A</i> (craniofacial anomalies, and intellectual disability). The rest of the PSS phenotype is still not associated with a specific gene. We report a systematic review of the literature and included two novel cases. Bec ...[more]