Clinical description, molecular delineation, and genotype-phenotype correlation in KBG syndrome: 67 new patients and review of the literature
Elena Martinez-Cayuelas,Isabel Lorda,Fiona Blanco-Kelly,Rosario Lopez-Rodriguez,Fermina Lopez-Grondona,Saoud Tahsin-Swafiri, Rebeca Losada,Beatriz Moreno,Maria Rodrigo, Carmen Ayuso,Aitor Lopez-Gonzalez,Antonio Martinez-Monseny,Irene Valenzuela Palafoll,Anna Maria Cueto-Gonzalez,Sixto Garcia-Minaur,Fernando Santos-Simarro,Jaime Cruz,Juan Francisco Quesada Espinosa,Jaime Sanchez del Pozo, Ana Rosa Arteche Lopez,Blanca Gener Querol,Isabel Llano Rivas,Alberto Fernandez-Jaen, Raquel Bernardo Fonz,Sergio Aguilera Albesa,Pablo Prieto,Javier Lopez Pison,Vanessa Lopez,Ignacio Malaga,Maria Palomares Bralo,Soraya Ramiro Leon, Beatriz Martinez Menendez, Belen Gil-Fourier,Jesus Eiris, Juan Jose, Garcia Penas, Begona De Azua Brea,Nadia Irazabal,Irene Madrigal,Maria Isabel Alvarez,Sara Alvarez, Maria Garcia,Berta Almoguera Castillo EUROPEAN JOURNAL OF HUMAN GENETICS（2023）
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