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

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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Bibliographic Details
Main Authors: Katy Phelan, Luigi Boccuto, Craig M. Powell, Tobias M. Boeckers, Conny van Ravenswaaij-Arts, R. Curtis Rogers, Carlo Sala, Chiara Verpelli, Audrey Thurm, William E. Bennett, Christopher J. Winrow, Sheldon R. Garrison, Roberto Toro, Thomas Bourgeron
Format: Article
Language:English
Published: BMC 2022-01-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Phelan-McDermid syndrome
PMS
SHANK3
22q13 deletion
Online Access:https://doi.org/10.1186/s13023-022-02180-5

Internet

https://doi.org/10.1186/s13023-022-02180-5

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