Two siblings with Bosch-Boonstra-Schaaf optic atrophy syndrome due to parental gonadal mosaicism
| Autor: | van Renterghem, Victoria, Vilain, Catheline, Devriendt, Koenraad, Casteels, Ingele, Smits, Guillaume, Soblet, Julie, Balikova, Irina |
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| Zdroj: | In European Journal of Medical Genetics April 2023 66(4) |
| Databáze: | ScienceDirect |
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