A case report of Phelan-McDermid syndrome: preliminary results of the treatment with growth hormone therapy

BACKGROUND: 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. CASE PRESENTATION: We report a case of a 21 months old Chinese girl presenting with global developmental delay...

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Detalles Bibliográficos
Autores principales: Xie, Rui Jin, Li, Tian Xiao, Sun, Chenyu, Cheng, Ce, Zhao, Jinlin, Xu, Hua, Liu, Yueying
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7934562/
https://www.ncbi.nlm.nih.gov/pubmed/33663540
http://dx.doi.org/10.1186/s13052-021-01003-w

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