Article
What Is the Exact Contribution of PITX1 and TBX4 Genes in Clubfoot Development? An Italian Study.
Genes - 27 Oct 2022
Bianco Anna Monica, Ragusa Giulia, Di Carlo Valentina, Faletra Flavio, Di Stazio Mariateresa, Racano Costantina, Trisolino Giovanni, Cappellani Stefania, De Pellegrin Maurizio, d'Addetta Ignazio, Carluccio Giuseppe, Monforte Sergio, Andreacchio Antonio, Dibello Daniela, d'Adamo Adamo P
Abstract excerpt
Congenital clubfoot is a common pediatric malformation that affects approximately 0.1% of all births. 80% of the cases appear isolated, while 20% can be secondary or associated with complex syndromes. To date, two genes that appear to play an important role are PTIX1 and TBX4, but their actual impact is still unclear. Our study aimed to evaluate the prevalence of pathogenic variants in PITX1 and TBX4 in Italian...
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