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: Characterization of the phenotype in 42 patients.
Melis D et al.
Clinical Genetics, 2020
Primrose syndrome associated with unclassified immunodeficiency and a novel ZBTB20 mutation.
Yamamoto-Shimojima K et al.
American Journal of Medical Genetics. Part A, 2020
Clinical and functional characterization of two novel ZBTB20 mutations causing Primrose syndrome.
Stellacci E et al.
Human Mutation, 2018
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
Alterations in metabolic patterns have a key role in diagnosis and progression of primrose syndrome.
Casertano A et al.
American Journal of Medical Genetics. Part A, 2017
Novel de novo mutations in ZBTB20 in Primrose syndrome with congenital hypothyroidism.
Mattioli F et al.
American Journal of Medical Genetics. Part A, 2016
Mutations in ZBTB20 cause Primrose syndrome.
Cordeddu V et al.
Nature Genetics, 2014
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