A proof-of-concept study of growth hormone in children with Phelan–McDermid syndrome

BACKGROUND: Phelan–McDermid syndrome (PMS) is caused by 22q13 deletions including SHANK3 or pathogenic sequence variants in SHANK3 and is among the more common rare genetic findings in autism spectrum disorder (ASD). SHANK3 is critical for synaptic function, and preclinical and clinical studies sugg...

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Detalles Bibliográficos
Autores principales: Sethuram, S., Levy, T., Foss-Feig, J., Halpern, D., Sandin, S., Siper, P. M., Walker, H., Buxbaum, J. D., Rapaport, R., Kolevzon, A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Letter to the Editor
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8800321/
https://www.ncbi.nlm.nih.gov/pubmed/35093163
http://dx.doi.org/10.1186/s13229-022-00485-7

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