Functionalisation of de-novo synonymous variant in TCF4 associated with Pitt-Hopkins syndrome: a case report and review of literature. - Htoo CEMC; Ng JWZ; Sim DY; Goh J; Lim JY; Goh JCY; Kam S; Teo JX; Lim WK; Roca X; Jamuar SS (Clinical dysmorphology, 2025)