Orofacial Lymphedema in Phelan–McDermid Syndrome: A Case of Hemifacial Involvement and a Scoping Review

Phelan–McDermid syndrome (PMS) is a rare genetic disorder primarily caused by deletions or structural alterations of chromosome 22q13, often involving the SHANK3 gene. However, mutations in other genes, such as CELSR1, or deletions in the interstitial regions of 22q13 contribute to the phenotypic va...

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Hlavní autoři:	Domenico De Falco, Dario Di Stasio, Dorina Lauritano, Alberta Lucchese, Massimo Petruzzi
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	MDPI AG 2025-02-01
Edice:	Applied Sciences
Témata:	Phelan–McDermid syndrome lymphedema orofacial lymphedema
On-line přístup:	https://www.mdpi.com/2076-3417/15/4/2195
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