Autor: Alex Barragán-Muñoz
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Case Report: First case of paternal mosaicism in Snijders Blok–Fisher syndrome
Snijders Blok–Fisher syndrome (SNIBFIS; OMIM #618604) is a rare autosomal dominant neurodevelopmental disorder caused mainly by de novo variants in POU3F3 gene. Here, we report for the first time, two affected siblings harboring a truncating POU3F3 var…