3 EXOSC3 mutatiOns in POntOcerebellar hyPOPlasia tyPe 1: nOVel mutatiOns and genOtyPe-PhenOtyPe cOrrelatiOns

2 TOE1 mutatiOns cause POntOcerebellar hyPOPlasia and disOrders Of sex deVelOPment

A Mild Neurodevelopmental Phenotype Associated with a Novel BRAT1 Variant: Expanding Genotype–Phenotype Correlations

Background: BRAT1-related disorders constitute a continuous neurodevelopmental spectrum ranging from rigidity and multifocal seizure syndrome, lethal neonatal form (RMFSL) to milder phenotypes characterized by cerebellar involvement and variable developmental impairment. Genotype–phenotype correlations remain incomplet...

Two Cases of ASXL3‐Related Bainbridge–Ropers Syndrome: Clinical and Genetic Evaluation

This case report emphasizes the phenotypic spectrum of this disorder and describes a variant that has not been previously reported in the literature, which is associated with heterozygous truncating pathogenic variants in the ASXL3 gene.

A Heterozygous Variant in the GABBR2 Gene in a Girl With Clinical Classic Rett Syndrome

ABSTRACT Background Rett syndrome (RTT) is a neurodevelopmental disorder mainly affecting females and may start with seemingly normal early development but leads to developmental stagnation, regression, and characteristic neurological symptoms. While most cases involve MECP2 variants, other genes have been implicated i...

on THe origin of PonToCereBeLLar HyPoPLasia: finding genes for a rare disease

The identification of TOE1 and CLP1 as PCH causing genes is an important finding for PCH research and is directly implementable in PCH diagnostics, and genotype-phenotype correlations in patients and in patients with mutations in EXOSC3 are elucidated.

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