Article

A framework to identify modifier genes in patients with Phelan-McDermid syndrome

2017-03-18

Abstract excerpt

<h4>ABSTRACT</h4> Phelan-McDermid syndrome (PMS) is characterized by a variety of clinical symptoms with heterogeneous degrees of severity, including intellectual disability, speech impairment, and autism spectrum disorders (ASD). It results from a deletion of the 22q13 locus that in most cases includes the SHANK3 gene. SHANK3 is considered a major gene for PMS, but the factors modulating the severity of the sy...

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Literature Corpus work: d0964af7-a50e-5d5b-aed6-bf6e0d7b41b8
DOI: 10.1101/117978

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