PPP1CB

Publications

Barker HM et al. Three genes for protein phosphatase 1 map to different human chromosomes: Sequence, expression and gene localisation of protein serine/ threonine phosphatase 1 beta (PPP1CB). Biochim Biophys Acta  1994; 1220:212–218. PMID: 8312365.

Gripp KW et al. A novel  rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair. Am J Med Genet Part A,. 2016 70A:2237–2247. PMID: 27264673.

Ma L et al. De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease. Hum. Genet. 135: 1399-1409, 2016. PMID: 27681385.

Zambrano RM et al. Further evidence that variants in PPP1CB cause a rasopathy similar to Noonan syndrome with loose anagen hair. (Letter) Am. J. Med. Genet. 2017 173A: 565-567. PMID: 27868344.

Bertola D et al. The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: broadening the clinical phenotype. (Letter) Am. J. Med. Genet. 2017 173A: 824-828. PMID: 28211982.

Lin CH et al. Epileptic spasms in PPP1CB-associated Noonan-like syndrome: a case report with clinical and therapeutic implications. BMC Neurol. 2018 Sep 20;18(1):150. PMID: 30236064.

Zhou P et al. A case report of Noonan syndrome-like disorder with loose anagen hair 2 treated with recombinant human growth hormone. Am J Med Genet A. 2020 Aug;182(8):1967-1971. PMID: 32476286.

Huckstadt V et al. Noonan syndrome with loose anagen hair with variants in the PPP1CB gene: First familial case reported. Am J Med Genet A. 2021 Apr;185(4):1256-1260. PMID: 33491856.

Maruwaka K et al. Two Japanese patients with Noonan syndrome-like disorder with loose anagen hair 2. Am J Med Genet A. 2022 Jul;188(7):2246-2250. PMID: 35338599.

He X et al. Case report: Identification and clinical phenotypic analysis of novel mutation of the PPP1CB gene in NSLH2 syndrome. Front Behav Neurosci. 2022 Sep 8;16:987259. PMID: 36160684.