GENOTYPE/PHENOTYPE CORRELATION IN TUBEROUS SCLEROSIS

Pubblicazioni Scientifiche

• HUMAN GENETICS

  TSC1 and TSC2 deletions differ in size, preference for recombinatorial sequences, and location within the gene

• KIDNEY INTERNATIONAL

  Polycystin-1 expression in PKD1, early-onset PKD1, and TSC2/PKD1 cystic tissue

• RARE KIDNEY DISEASES

  Treatment of the pulmonary involvement in the patient with tuberous sclerosis complex

• RARE KIDNEY DISEASES

  Two different types of renal involvement in tuberous sclerosis complex