Article
Schuurs-Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review.
Genes - 13 May 2021
Tenorio-Castaño Jair, Morte Beatriz, Nevado Julián, Martinez-Glez Víctor, Santos-Simarro Fernando, García-Miñaúr Sixto, Palomares-Bralo María, Pacio-Míguez Marta, Gómez Beatriz, Arias Pedro, Alcochea Alba, Carrión Juan, Arias Patricia, Almoguera Berta, López-Grondona Fermina, Lorda-Sanchez Isabel, Galán-Gómez Enrique, Valenzuela Irene, Méndez Perez María Pilar, Cuscó Ivón, Barros Francisco, Pié Juan, Ramos Sergio, Ramos Feliciano J, Kuechler Alma, Tizzano Eduardo, Ayuso Carmen, Kaiser Frank J, Pérez-Jurado Luis A, Carracedo Ángel, The ENoD-Ciberer Consortium, The Side Consortium, Lapunzina Pablo
Abstract excerpt
Schuurs-Hoeijmakers syndrome (SHMS) or PACS1 Neurodevelopmental disorder is a rare disorder characterized by intellectual disability, abnormal craniofacial features and congenital malformations. SHMS is an autosomal dominant hereditary disease caused by pathogenic variants in the PACS1 gene. PACS1 is a trans-Golgi-membrane traffic regulator that directs protein cargo and several viral envelope proteins. It is...
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