Associated Papers
Unusual Characteristics and Variable Expressivity in a Brazilian Family with Cherubism.
Deconte D et al.
Journal of Pediatric Genetics, 2021
Clinical and genetic analysis of patients with cherubism.
Machado RA et al.
Oral Diseases, 2017
Proteome-wide analysis of human disease mutations in short linear motifs: neglected players in cancer?
Uyar B et al.
Molecular Biosystems, 2014
25057855 (PubMed )
Supplement: MB-010-C4mb00290c-s002.zip › Supplementary_file_9.xlsx › A__OMIM_dataset
Novel nucleotide mutation leading to a recurrent amino acid alteration in SH3BP2 in a patient with cherubism.
Sangu N et al.
Congenital Anomalies, 2013
Anti-tumor necrosis factor treatment in cherubism--clinical, radiological and histological findings in two children.
Hero M et al.
Bone, 2013
Structural basis and sequence rules for substrate recognition by Tankyrase explain the basis for cherubism disease.
Guettler S et al.
Cell, 2011
Identification of a novel mutation of SH3BP2 in cherubism and demonstration that SH3BP2 mutations lead to increased NFAT activation.
Lietman SA et al.
Human Mutation, 2006
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