Article

A Case Report of Phelan-McDermid Syndrome: Successful Treatment with Growth Hormone Therapy

2020-11-25

Abstract excerpt

<title>Abstract</title> <p><bold>Background:</bold> Phelan-McDermid syndrome (PMS), also known as 22q13.3 deletion syndrome, is a rare neurodevelopmental syndrome resulting from a deletion of the distal long arm of chromosome 22. <bold>Case presentation:</bold> We report a case of a 21 months old Chinese girl presenting with global developmental delay, absence of speech, unable to understand a few words or walk i...

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Literature Corpus work: 0e223730-1c73-58df-9d89-d0e622670c7b
DOI: 10.21203/rs.3.rs-113395/v1

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