Supplementary 1



For parents, caregivers, health care providers, and teachers, concerns and questions often arise regarding the care and well-being of individuals with Cornelia de Lange syndrome. 

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Este trabajo es el primero que correlaciona con detalle las características físicas y del comportamiento con los hallazgos de los estudios genéticos en una serie de pacientes con SCdL..

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Los trabajos 13 y 14 son los primeros que demuestran que el SCdL es una cohesinopatía.

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Este trabajo es el primero que demuestra que en un número importante de pacientes con SCdL la mutación de NIPBL se encuentra únicamente en tejidos distintos a la sangre.

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