Stratification of a Phelan–McDermid Syndrome Population Based on Their Response to Human Growth Hormone and Insulin-like Growth Factor

Stratification of a Phelan–McDermid Syndrome Population Based on Their Response to Human Growth Hormone and Insulin-like Growth Factor

Phelan–McDermid syndrome (PMS), caused by pathogenic variants in the <i>SHANK3</i> gene or 22q13 deletions, is characterized by intellectual disability, autistic features, developmental delays, and neonatal hypotonia. Insulin-like growth factor 1 (IGF-1) and human growth hormone (hGH) ha...

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Bibliographic Details
Main Authors: Bridgette A. Moffitt, Sara M. Sarasua, Diana Ivankovic, Linda D. Ward, Kathleen Valentine, William E. Bennett, Curtis Rogers, Katy Phelan, Luigi Boccuto
Format: Article
Language:English
Published: MDPI AG 2023-02-01
Series:Genes
Subjects:
Phelan–McDermid syndrome
PMS
22q13.3 deletion syndrome
<i>SHANK3</i>
growth hormone
hGH
Online Access:https://www.mdpi.com/2073-4425/14/2/490

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https://www.mdpi.com/2073-4425/14/2/490

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