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Article

Definition and clinical variability of SHANK3-related Phelan-McDermid syndrome.

European journal of medical genetics - 1 Jul 2023

Schön Michael, Lapunzina Pablo, Nevado Julián, Mattina Teresa, Gunnarsson Cecilia, Hadzsiev Kinga, Verpelli Chiara, Bourgeron Thomas, Jesse Sarah, van Ravenswaaij-Arts Conny M A, Hennekam Raoul C

Abstract excerpt

Phelan-McDermid syndrome (PMS) is an infrequently described syndrome that presents with a disturbed development, neurological and psychiatric characteristics, and sometimes other comorbidities. As part of the development of European medical guidelines we studied the definition, phenotype, genotype-phenotype characteristics, and natural history of the syndrome. The number of confirmed diagnoses of PMS in different...

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Identifiers

PMID: 37003575
DOI: 10.1016/j.ejmg.2023.104754

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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