Phelan-McDermid syndrome: a classification system after 30 years of experience

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 deletions of t...

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Detalles Bibliográficos
Autores principales: Phelan, Katy, Boccuto, Luigi, Powell, Craig M., Boeckers, Tobias M., van Ravenswaaij-Arts, Conny, Rogers, R. Curtis, Sala, Carlo, Verpelli, Chiara, Thurm, Audrey, Bennett, William E., Winrow, Christopher J., Garrison, Sheldon R., Toro, Roberto, Bourgeron, Thomas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Letter to the Editor
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8800328/
https://www.ncbi.nlm.nih.gov/pubmed/35093143
http://dx.doi.org/10.1186/s13023-022-02180-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8800328/
https://www.ncbi.nlm.nih.gov/pubmed/35093143
http://dx.doi.org/10.1186/s13023-022-02180-5

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