CR2 Sinapsi

What disease

Orlando suffers from a deletion in the 2p16.3 region of the NRXN1 gene, found through Array-CGH genetic analysis.

Although such deletion involves an intronic region of the gene, i.e. the part that doesn’t encode the gene proteins, Orlando shows a clinical picture similar to the phenotype found in patients suffering from the same deletion but in esonic regions, encoding proteins of the same gene: hypotonia , psychomotor and linguistic retardation.

Seguici

Contacts

Tel.: +39 0372 178 6698
Cel: +39 350 813 8029
Email: info@occhiazzurrionlus.org
PEC: occhiazzurrionlus@messaggipec.it

Headquarters:
Via Serio 34 - 26100 Cremona (CR) Italy

President: Engr. Filippo Ruvioli