Expanding the neurological and behavioral phenotype of White-Sutton syndrome: a case report

BACKGROUND: White-Sutton (WHSUS) is a recently recognized syndrome caused by mutations of the POGZ gene. Approximately 70 patients have been reported to date. Intellectual disability, hypotonia, behavioral abnormalities, autism, and typical facial dysmorphisms are recognized as WHSUS features; howev...

Descripción completa

Detalles Bibliográficos
Autores principales: Donnarumma, Bernadette, Riccio, Maria Pia, Terrone, Gaetano, Palma, Melania, Strisciuglio, Pietro, Scala, Iris
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8254207/
https://www.ncbi.nlm.nih.gov/pubmed/34215294
http://dx.doi.org/10.1186/s13052-021-01101-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8254207/
https://www.ncbi.nlm.nih.gov/pubmed/34215294
http://dx.doi.org/10.1186/s13052-021-01101-9

Ejemplares similares