Phelan-McDermid syndrome: a classification system after 30 years of experience
Abstract Phelan-McDermid syndrome (PMS) was initially called the 22q13 deletion syndrome based on its etiology as a deletion of the distal long arm of chromosome 22. These included terminal and interstitial deletions, as well as other structural rearrangements. Later, pathogenetic variants and delet...
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| Principais autores: | , , , , , , , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
BMC
2022-01-01
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| Series: | Orphanet Journal of Rare Diseases |
| Assuntos: | |
| Acceso en liña: | https://doi.org/10.1186/s13023-022-02180-5 |
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