Livia Garavelli

TL;DR: The identification of SMARCA2 mutations in humans provides insight into the function of the Snf2 helicase family and alterations likely do not impair SWI/SNF complex assembly but may be associated with disrupted ATPase activity.

TL;DR: The facial phenotype is particularly important for the initial clinical diagnosis and provides the hallmark warranting ZEB2 mutational analysis, even in the absence of HSCR, suggesting that haploinsufficiency is the main pathological mechanism.

TL;DR: Genotype-phenotype analysis confirmed that ZFHX1B deletions and stop mutations result in a recognizable facial dysmorphism with associated severe mental retardation and variable malformations such as Hirschsprung disease and congenital heart defects and indicates that structural eye anomalies such as microphthalmia should be considered as part of the MWS spectrum.

TL;DR: The molecular data, combined with review of the literature, show that PIK3CA-related overgrowth disorders comprise a discontinuous spectrum of disorders that correlate with the severity and distribution of mutations.

TL;DR: It was found that Knockdown of nansa in zebrafish embryos resulted in abnormal skeletal development, and exogenously added sialic acid partially rescued the skeletal phenotype, and NANS-mediated synthesis of siala is required for early brain development and skeletal growth.