A case report of a patient with microcephaly, facial dysmorphism, chromosomal radiosensitivity and telomere length alterations closely resembling “Nijmegen breakage syndrome” phenotype
Titel:
A case report of a patient with microcephaly, facial dysmorphism, chromosomal radiosensitivity and telomere length alterations closely resembling “Nijmegen breakage syndrome” phenotype
Auteur:
Berardinelli, F. di Masi, A. Salvatore, M. Banerjee, S. Myung, K. De Villartay, J.P. Revy, P. Plebani, A. Soresina, A. Taruscio, D. Tanzarella, C. Antoccia, A.