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Articles by Benoît Mazel
Mechanistic insights into 16p13.3 microdeletions encompassing TBC1D24 and ATP6V0C through advanced sequencing approaches - European Journal of Human Genetics
Abstract Chromosomal microdeletions represent a complex class of genetic disorders. Recently, 16p13.3 microdeletions encompassing TBC1D24 and ATP6V0C have gained prominence as structural variants associated with neurodevelopmental disorders, but their occurrence mechanisms remain unexplored.
FOXG1 variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language development
CONFLICT OF INTEREST STATEMENT The authors declare no conflicts of interest. Supporting Information Filename Description ajmgb32970-sup-0001-supinfo.docxWord 2007 document , 19.4 KB Data S1. Detailed case reports. REFERENCES , , & (2022). Paving therapeutic avenues for FOXG1 syndrome: Untangling genotypes and phenotypes from a molecular perspective. International Journal of Molecular Sciences, 23(2), 954. https://doi.org/10.3390/ijms23020954 , , , , , , , , , , , , , , , , & (2012).
FOXG1 variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language development
1 INTRODUCTION Forkhead box G1 (FOXG1) is part of the highly conserved forkhead box transcription factors superfamily.
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant - European Journal of Human Genetics
Abstract Haploinsufficiency of TRIP12 causes a neurodevelopmental disorder characterized by intellectual disability associated with epilepsy, autism spectrum disorder and dysmorphic features, also named Clark-Baraitser syndrome. Only a limited number of cases have been reported to date.
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