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Functionalisation of De-Novo Synonymous Variant in TCF4 Associated with Pitt-Hopkins Syndrome: a Case Report and Review of Literature.

Chaerish Eint Myet Chae Htoo,Janice Wan Zhen Ng,Donald Yuhui Sim, Jeannette Goh,Jiin Ying Lim,Jasmine Chew Yin Goh,Sylvia Kam,Jing Xian Teo,Weng Khong Lim,Xavier Roca,Saumya Shekhar Jamuar

Clinical dysmorphology（2025）

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