Primrose syndrome
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
Primrose syndrome associated with unclassified immunodeficiency and a novel ZBTB20 mutation.
|
31821719 |
2020 |
Primrose syndrome
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
Refining the Primrose syndrome phenotype: A study of five patients with ZBTB20 de novo variants and a review of the literature.
|
30637921 |
2019 |
Primrose syndrome
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
Both Patients 1 and 2 were found to carry heterozygous likely pathogenic missense variants, detected in the last coding exon of ZBTB20 (c.1822T>C, p.Cys608Arg, de novo, and c.1873A>G, p.Met625Val, respectively), consistent with PRIMS.
|
31321892 |
2019 |
Primrose syndrome
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
Here, we report novel de novo ZBTB20 mutations in three independent cases with characteristic features of Primrose syndrome including constant CCA.
|
29681083 |
2018 |
Primrose syndrome
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
Our data document that both mutations have dominant negative impact on wild-type ZBTB20, providing further evidence of the specific behavior of PS-causing mutations on ZBTB20 function.
|
29737001 |
2018 |
Primrose syndrome
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
Novel de novo mutations in ZBTB20 in Primrose syndrome with congenital hypothyroidism.
|
27061120 |
2016 |
Primrose syndrome
|
0.770 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
We report that missense mutations in ZBTB20, residing within the 3q13.31 microdeletion syndrome critical region, underlie Primrose syndrome.
|
25017102 |
2014 |
Primrose syndrome
|
0.770 |
Biomarker
|
disease |
CTD_human |
We report that missense mutations in ZBTB20, residing within the 3q13.31 microdeletion syndrome critical region, underlie Primrose syndrome.
|
25017102 |
2014 |
Primrose syndrome
|
0.770 |
GeneticVariation
|
disease |
UNIPROT |
We report that missense mutations in ZBTB20, residing within the 3q13.31 microdeletion syndrome critical region, underlie Primrose syndrome.
|
25017102 |
2014 |
Primrose syndrome
|
0.770 |
GermlineCausalMutation
|
disease |
ORPHANET |
We report that missense mutations in ZBTB20, residing within the 3q13.31 microdeletion syndrome critical region, underlie Primrose syndrome.
|
25017102 |
2014 |
Primrose syndrome
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
We report that missense mutations in ZBTB20, residing within the 3q13.31 microdeletion syndrome critical region, underlie Primrose syndrome.
|
25017102 |
2014 |
Primrose syndrome
|
0.770 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Motor tics, stereotypies, and self-flagellation in primrose syndrome.
|
20644156 |
2010 |
Primrose syndrome
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Primrose syndrome
|
0.770 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Primrose syndrome
|
0.770 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|