Fraternal twins with Phelan-McDermid syndrome not involving the SHANK3 gene: case report and literature review

BACKGROUND: Phelan-McDermid syndrome (PMS, OMIM#606232), or 22q13 deletion syndrome, is a rare genetic disorder caused by deletion of the distal long arm of chromosome 22 with a variety of clinical features that display considerably heterogeneous degrees of severity. The SHANK3 gene is understood to...

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Detalles Bibliográficos
Autores principales: Li, Shan, Xi, Ke-wang, Liu, Ting, Zhang, Ying, Zhang, Meng, Zeng, Li-dong, Li, Juan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7539423/
https://www.ncbi.nlm.nih.gov/pubmed/33023580
http://dx.doi.org/10.1186/s12920-020-00802-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7539423/
https://www.ncbi.nlm.nih.gov/pubmed/33023580
http://dx.doi.org/10.1186/s12920-020-00802-0

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