Associated Papers
Primrose syndrome: Characterization of the phenotype in 42 patients.
Melis D et al.
Clinical Genetics, 2020
Refining the Primrose syndrome phenotype: A study of five patients with ZBTB20 de novo variants and a review of the literature.
Cleaver R et al.
American Journal of Medical Genetics. Part A, 2019
A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.
George AJ et al.
Frontiers in Genetics, 2018
29491882 (PubMed )
Supplement: Table2.xlsx › Sheet1
Novel de novo mutations in ZBTB20 in Primrose syndrome with congenital hypothyroidism.
Mattioli F et al.
American Journal of Medical Genetics. Part A, 2016
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