A Novel PACS1 Variant Associated With Schuurs-Hoeijmakers Syndrome Phenotype in an Indigenous Descendant in Brazil: A Case Report

Schuurs-Hoeijmakers syndrome, an autosomal dominant disorder associated with mutations in the PACS1 gene, was initially identified in two unrelated children of European descent from a cohort of individuals with intellectual disabilities. This gene alteration significantly reduced cranial cartilagino...

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Detalles Bibliográficos
Autores principales: Lucena, Pedro H, Nonaka, Carolina, Armani-Franceschi, Giulia, Carneiro, Pedro, Sales, Henrique, Lucena, Mariana, Bandeira, Igor D, Solano, Bruno, Lucena, Rita
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9674399/
https://www.ncbi.nlm.nih.gov/pubmed/36415352
http://dx.doi.org/10.7759/cureus.30486

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