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Article

Neurological phenotype of Potocki-Lupski syndrome.

American journal of medical genetics. Part A - 1 Oct 2020

Ciaccio Claudia, Pantaleoni Chiara, Milani Donatella, Alfei Enrico, Sciacca Francesca L, Canafoglia Laura, Erbetta Alessandra, D'Arrigo Stefano

Abstract excerpt

Potocki-Lupski syndrome is a condition mainly characterized by infantile hypotonia, developmental delay/intellectual disability (DD/ID), and congenital anomalies, caused by duplications of the 17p11.2 region, encompassing RAI1 gene. Its clinical presentation is extremely variable, especially for what concerns the cognitive level and the behavioral phenotype. Such aspects, as well as the dysmorphic/malformative...

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Identifiers

PMID: 33043631
DOI: 10.1002/ajmg.a.61789

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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