Tenorio Castaño, Jair; Pérez Jurado, Luis Alberto; Lapunzina, Pablo Daniel
(MDPI, 2021)
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 ...