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Pubblicazioni IRIS

• A hypomorphic FLVCR2 variant resulting in moderate transport deficiency causes hydranencephaly syndrome with brain calcifications
  Anno: 2026
• Functional Characterization of a Novel Intronic Variant in PIEZO2 in a Recessive Form of Distal Arthrogryposis With Impaired Proprioception and Touch (DAIPT)
  Anno: 2025
• LMX1B haploinsufficiency due to variants in the 5'UTR as a cause of Nail-Patella syndrome
  Anno: 2025