Associated Papers
Novel de novo mutation in ZBTB20 in a Chinese Primrose syndrome family and a review of the literature.
Li J et al.
Molecular Genetics & Genomic Medicine, 2024
Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20.
Juven A et al.
European Journal of Human Genetics : Ejhg, 2020
Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability.
Chevarin M et al.
Journal of Medical Genetics, 2020
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