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- [9] X-linked hypophosphatemia caused by a novel deep intronic variant in the PHEX gene HORMONE RESEARCH IN PAEDIATRICS, 2024, 97 : 157 - 158
- [10] Leaky phenotype of X-linked agammaglobulinaemia in a Japanese family CLINICAL AND EXPERIMENTAL IMMUNOLOGY, 2005, 140 (03): : 520 - 523