Associated Papers
Research progress of the relationship between phosphoprotein phosphatases (PPPs) and neurodevelopmental disorders.
Ji W et al.
Clinical Genetics, 2024
Case report: Identification and clinical phenotypic analysis of novel mutation of the PPP1CB gene in NSLH2 syndrome.
He X et al.
Frontiers in Behavioral Neuroscience, 2022
The role of serine/threonine phosphatases in human development: Evidence from congenital disorders.
Vaneynde P et al.
Frontiers in Cell and Developmental Biology, 2022
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
Cleft palate and hypopituitarism in a patient with Noonan-like syndrome with loose anagen hair-1.
Couser NL et al.
American Journal of Medical Genetics. Part A, 2018
The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: Broadening the clinical phenotype.
Bertola D et al.
American Journal of Medical Genetics. Part A, 2017
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
Role of CFTR variants explored in developing cystic fibrosis symptoms: Latest research highlights disease manifestations in diverse ethnicities of children.
Unknown Author
American Journal of Medical Genetics. Part A, 2016
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