A novel homozygous ISPD gene mutation causing phenotype variability in a consanguineous family
Titel:
A novel homozygous ISPD gene mutation causing phenotype variability in a consanguineous family
Auteur:
Baranello, Giovanni Saredi, Simona Sansanelli, Serena Savadori, Paolo Canioni, Eleonora Chiapparini, Luisa Balestri, Paolo Malandrini, Alessandro Arnoldi, Maria Teresa Pantaleoni, Chiara Morandi, Lucia Mora, Marina