Identification of a Novel Homozygous SLC34A1 Missense Mutation and a Heterozygous SLC34A3 Deletion in an Infant with Nephrocalcinosis, Failure to Thrive, and Hypercalcemia.
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| Title: | Identification of a Novel Homozygous SLC34A1 Missense Mutation and a Heterozygous SLC34A3 Deletion in an Infant with Nephrocalcinosis, Failure to Thrive, and Hypercalcemia. |
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| Authors: | Mura-Escorche, Glorián1 (AUTHOR), García-Suarez, Leire C.2 (AUTHOR), Lebredo-Álvarez, Isis3 (AUTHOR), Ramos-Trujillo, Elena1,4 (AUTHOR), Claverie-Martin, Felix1 (AUTHOR) |
| Source: | International Journal of Molecular Sciences. Sep2025, Vol. 26 Issue 17, p8541. 15p. |
| Database: | Academic Search Ultimate |
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| ISSN: | 16616596 |
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| DOI: | 10.3390/ijms26178541 |
