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Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome
(Oxford University Press, 2020-07-21)CTNND1 encodes the p120-catenin (p120) protein, which has a wide range of functions, including the maintenance of cell-cell junctions, regulation of the epithelial-mesenchymal transition and transcriptional signalling. Due ... -
Primrose syndrome: Characterization of the phenotype in 42 patients
(Wiley, 2020-06)Primrose syndrome (PS; MIM# 259050) is characterized by intellectual disability (ID), macrocephaly, unusual facial features (frontal bossing, deeply set eyes, down-slanting palpebral fissures), calcified external ears, ...