Article

Case Study and Literature Review of Phelan-McDermid Syndrome Caused By a Pathogenic Mutation in The SHANK3 Gene

2021-08-18

Abstract excerpt

<title>Abstract</title> <p><bold>Background: </bold>Phelan-McDermid syndrome is a rare genetic disorder resulting from heterozygous deletion of 22q13.3 with the involvement of at least part of <italic>SHANK3</italic> or a heterozygous pathogenic variant in <italic>SHANK3</italic>. We would like to explore the possible pathogenesis and therapeutic direction of PMS.<bold>Methods: </bold>We identified a child who ha...

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Literature Corpus work: c5866fa8-d417-529b-9c1a-5c0854a0ac1b
DOI: 10.21203/rs.3.rs-800787/v1

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