Prenatal Characterization of Houge–Janssens Syndrome Type 2: A Case Report and Systematic Review of Fetal Phenotypes Associated With PPP2R1A Mutations
Sign Up to like & getrecommendations! Published in 2025 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.70129
Abstract: Houge–Janssens syndrome type 2 (HJS2, OMIM 616362) is a rare neurodevelopmental disorder caused by pathogenic variants in PPP2R1A, typically characterized postnatally by hypotonia, developmental delay, intellectual disability, and distinctive craniofacial features. read more here.
Keywords: houge janssens; syndrome type; prenatal characterization; janssens syndrome ... See more keywords