Associated Papers
Houge-Janssens syndrome.
Houge GD et al.
European Journal of Human Genetics : Ejhg, 2025
A recurrent variant in PPP2R5C identified in individuals with macrocephaly, intellectual disability, and seizures.
Muir AM et al.
Hgg Advances, 2025
Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum.
Verbinnen I et al.
American Journal of Human Genetics, 2025
Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth.
Loveday C et al.
Human Molecular Genetics, 2015
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