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 SHANK3 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) have been shown to re...

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Detalles Bibliográficos
Autores principales: Moffitt, Bridgette A., Sarasua, Sara M., Ivankovic, Diana, Ward, Linda D., Valentine, Kathleen, Bennett, William E., Rogers, Curtis, Phelan, Katy, Boccuto, Luigi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9956088/
https://www.ncbi.nlm.nih.gov/pubmed/36833418
http://dx.doi.org/10.3390/genes14020490

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9956088/
https://www.ncbi.nlm.nih.gov/pubmed/36833418
http://dx.doi.org/10.3390/genes14020490

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