Associated Papers
Diagnostic Utility of Trio-Exome Sequencing for Children With Neurodevelopmental Disorders.
Lan X et al.
Jama Network Open, 2025
40131272 (PubMed )
Supplement: jamanetwopen-e251807-s002.xlsx › eTable1
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
De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease.
Ma L et al.
Human Genetics, 2016
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
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