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De Novo Large Deletions in the PHEX Gene Caused X-Linked Hypophosphataemic Rickets in Two Italian Female Infants Successfully Treated with Burosumab.
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- Diagnostics (2075-4418), 2023, v. 13, n. 15, p. 2552, doi. 10.3390/diagnostics13152552
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Comprehensive Molecular Analysis of Disease-Related Genes as First-Tier Test for Early Diagnosis, Classification, and Management of Patients Affected by Nonsyndromic Ichthyosis.
- Published in:
- Biomedicines, 2024, v. 12, n. 5, p. 1112, doi. 10.3390/biomedicines12051112
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- Article