Caregiver‐based perception of disease burden in Schaaf‐Yang syndrome
Abstract Background Schaaf‐Yang syndrome (SYS) is a neurodevelopmental disorder caused by truncating variants in the paternally expressed MAGEL2 gene in the Prader‐Willi syndrome‐region on chromosome 15q. In addition to hypotonia and intellectual disability, individuals with SYS are frequently affec...
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| Hlavní autoři: | , , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Wiley
2023-12-01
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| Edice: | Molecular Genetics & Genomic Medicine |
| Témata: | |
| On-line přístup: | https://doi.org/10.1002/mgg3.2262 |
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