A Brazilian cohort of individuals with Phelan-McDermid syndrome: genotype-phenotype correlation and identification of an atypical case

BACKGROUND: Phelan-McDermid syndrome (PMS) is a rare genetic disorder characterized by global developmental delay, intellectual disability (ID), autism spectrum disorder (ASD), and mild dysmorphisms associated with several comorbidities caused by SHANK3 loss-of-function mutations. Although SHANK3 ha...

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Detalles Bibliográficos
Autores principales: Samogy-Costa, Claudia Ismania, Varella-Branco, Elisa, Monfardini, Frederico, Ferraz, Helen, Fock, Rodrigo Ambrósio, Barbosa, Ricardo Henrique Almeida, Pessoa, André Luiz Santos, Perez, Ana Beatriz Alvarez, Lourenço, Naila, Vibranovski, Maria, Krepischi, Ana, Rosenberg, Carla, Passos-Bueno, Maria Rita
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6637483/
https://www.ncbi.nlm.nih.gov/pubmed/31319798
http://dx.doi.org/10.1186/s11689-019-9273-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6637483/
https://www.ncbi.nlm.nih.gov/pubmed/31319798
http://dx.doi.org/10.1186/s11689-019-9273-1

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