Associated Papers
Research progress of the relationship between phosphoprotein phosphatases (PPPs) and neurodevelopmental disorders.
Ji W et al.
Clinical Genetics, 2024
Noonan syndrome with loose anagen hair with variants in the PPP1CB gene: First familial case reported.
Huckstadt V et al.
American Journal of Medical Genetics. Part A, 2021
Epileptic spasms in PPP1CB-associated Noonan-like syndrome: a case report with clinical and therapeutic implications.
Lin CH et al.
Bmc Neurology, 2018
Prioritized High-Confidence Risk Genes for Intellectual Disability Reveal Molecular Convergence During Brain Development.
Liu Z et al.
Frontiers in Genetics, 2018
30279698 (PubMed )
Supplement: Table_2.XLS › Sheet1
De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease.
Ma L et al.
Human Genetics, 2016
A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair.
Gripp KW et al.
American Journal of Medical Genetics. Part A, 2016
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
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