Abstract SATB2‐associated syndrome (SAS) is an autosomal dominant
neurodevelopmental disorder caused by alterations in the SATB2 gene. Here we present a …

SATB2-associated syndrome (SAS) is a multisystem disorder in which all affected
individuals have developmental delay/intellectual disability that can range from mild to …

FOXP transcription factors play important roles in neurodevelopment, but little is known
about how their transcriptional activity is regulated. FOXP proteins cooperatively regulate …

Summary Objective The Epilepsy Genetics Initiative (EGI) was formed in 2014 to create a
centrally managed database of clinically generated exome sequence data. EGI performs …

SATB2‐associated syndrome (SAS) is an autosomal dominant disorder characterized by
significant neurodevelopmental disabilities with limited to absent speech, behavioral issues …

Satb2-associated syndrome (SAS) is a genetic disorder that results from the deletion or
mutation of one allele within the Satb2 locus. Patients with SAS show behavioral …

The differential diagnostics in Rett syndrome has evolved with the development of next
generation sequencing‐based techniques and many patients have been diagnosed with …

Alterations in the homeostasis of either cortical progenitor pool, namely the apically located
radial glial (RG) cells or the basal intermediate progenitors (IPCs) can severely impair …

Background SATB2-associated syndrome (SAS) is a multisystem neurodevelopmental
disorder characterised by intellectual disability, speech delay, and craniofacial anomalies …

Peripheral ossifying fibroma (POF) is a benign localized lesion originating from gingival and
alveolar oral mucosa. Its origin can be cells of periodontal ligament. The lesions usually …