Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants
Beatriz Paumard‐Hernández(Hospital Universitario La Paz), Julia Berges‐Soria(Hospital Universitario La Paz), Eva Barroso(Hospital Universitario La Paz), Carlos I Rivera-Pedroza(Hospital Universitario La Paz), Virginia Pérez‐Carrizosa(Hospital Universitario La Paz), Sara Benito‐Sanz(Hospital Universitario La Paz), Eva López-Messa(Hospital Universitario La Paz), Fernando Santos(Hospital Universitario La Paz), I. García‐Recuero(Research Institute Hospital 12 de Octubre), A. Romance(Research Institute Hospital 12 de Octubre), Juliana María Ballesta-Martínez(Centre for Biomedical Network Research on Rare Diseases), Vanesa López‐González(Centre for Biomedical Network Research on Rare Diseases), Ángel Campos‐Barros(Hospital Universitario La Paz), Jaime Cruz‐Rojo(Hospital Universitario 12 De Octubre), Encarna Guillén‐Navarro(Centre for Biomedical Network Research on Rare Diseases), Jaime Sánchez del Pozo(Hospital Universitario 12 De Octubre), Pablo Lapunzina(Centre for Biomedical Network Research on Rare Diseases), Sixto García‐Miñáur(Centre for Biomedical Network Research on Rare Diseases), Karen E. Heath(Centre for Biomedical Network Research on Rare Diseases)
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