Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome
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E. Mercuri | A. Slavotinek | Emanuela Ponzi | S. Ricciardi | C. Cafiero | V. Leuzzi | D. Orteschi | M. Zollino | D. Battaglia | G. Marangi | I. Contaldo | M. Murdolo | G. Mancano | Alessia Asaro | Alice Moncada | M. Ali | Daniela Orteschi