Expanding the Clinical and Molecular Spectrum of HARS2-Perrault Syndrome: Identification of a Novel Homozygous Missense Variant in the HARS2 gene.
| Autor: | Souissi, Amal, Ben Said, Mariem, Frikha, Fakher, Elloumi, Ines, Masmoudi, Saber, Megarbane, Andre |
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| Zdroj: | Genetic Testing & Molecular Biomarkers; Aug2021, Vol. 25 Issue 8, p528-539, 12p |
| Databáze: | Complementary Index |
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