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Expanding the phenotypic spectrum associated with ZIC1 variants: A neurodevelopmental disorder with and without craniosynostosis.

Watts LM, Chang MSM, Lewis-Orr E, Walton IS, Leinhos L, Tooze RS, Pei Y, Calpena E, Vedovato-Dos-Santos JH, Steel D, Reid KM, Kurian MA, Mohammad SS, Cantagrel V, Siquier K, Boddaert N, Rio M, Blyth M, Kraus A, Al Mutairi F, Holder SE, Clowes VE, Cobben JM, Timberlake AT, Elias ER, Stewart H, Johnson D, Cohen JS, BaraƱano KW, Ceulemans S, Jones MC, Ortega Rico RI, Haug MG, Berland S, Bombei HM, Paulson A, Sidhu A, Gooch CF, da Rocha KM, Passos Bueno MR, Topa A, Muslimovic AZ, Maltese G, Tan TY, McCann E, Lord H, Chin HL, Lin J, Li-Meng Goh D, Keren B, Charles P, Delchev T, Avdjieva-Tzavella D, Alawbathani S, Almeida L, Kdissa A, Al-Ali R, Bertoli-Avella AM, Johnson D, Wilkie AOM, Arkell RM, Shears DJ, Twigg SRF. Expanding the phenotypic spectrum associated with ZIC1 variants: A neurodevelopmental disorder with and without craniosynostosis. Genet Med. 2026 Jun; 28(6):102585.

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