P340: Jaberi-Elahi syndrome caused by maternal UPD 6 resulting in homozygous variants from a heterozygous parent
| Autor: | Perry, Gabriella, Merberg, Jessica, Gomez, Luis, Shah, Ankit, Hauser, Natalie |
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| Zdroj: | In Genetics in Medicine Open 2024 2 Supplement 1 |
| Databáze: | ScienceDirect |
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