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...

Descripción completa

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

Ejemplares similares

Ejemplares similares