Baller-Gerold syndrome
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
The two heterozygous mutations (c.2059-1G>C and c.2141_2142delAG) were detected in the RECQL4 (NM_004260) gene in the fetus; therefore, the fetus was predicted to have Baller-Gerold syndrome.
|
25966250 |
2015 |
Baller-Gerold syndrome
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
Mutations in RecQL4 helicase results in three clinically related autosomal recessive disorders: Rothmund-Thomson syndrome (RTS), RAPADILINO, and Baller-Gerold syndrome.
|
30206236 |
2018 |
Baller-Gerold syndrome
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
This is the first reported case of BGS in Japan caused by RECQL4 gene mutation.
|
28358413 |
2017 |
Baller-Gerold syndrome
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
Our results confirm that BGS in a subgroup of patients is due to RECQL4 mutations and could be integrated into a clinical spectrum that encompasses RTS and RAPADILINO syndrome.
|
15964893 |
2006 |
Baller-Gerold syndrome
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
Interestingly, mutations in RECQL4 have recently been revealed not only in Rothmund-Thomson-, but RAPADILINO-, and cases of Baller-Gerold syndrome also.
|
16617241 |
2006 |
Baller-Gerold syndrome
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
However, mutations in RecQL4 result in three human disorders: (I) Rothmund-Thomson syndrome (RTS), (II) RAPADILINO and (III) Baller-Gerold syndrome (BGS).
|
29080750 |
2018 |
Baller-Gerold syndrome
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
We performed RECQL4 mutation detection in a patient with BGS and several clinical signs of RTS who developed a midline NK/T-cell lymphoma.
|
19291770 |
2009 |
Baller-Gerold syndrome
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases.
|
12952869 |
2003 |
Baller-Gerold syndrome
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
The mutation spectrum in RECQL4 diseases.
|
18716613 |
2009 |
Baller-Gerold syndrome
|
0.770 |
GeneticVariation
|
disease |
CLINVAR |
The helicase and ATPase activities of RECQL4 are compromised by mutations reported in three human patients.
|
23238538 |
2012 |
Baller-Gerold syndrome
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
RNA processing defects of the helicase gene RECQL4 in a compound heterozygous Rothmund-Thomson patient.
|
12838562 |
2003 |
Baller-Gerold syndrome
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
Therapy-related myelodysplasia in a patient with Rothmund-Thomson syndrome.
|
21418107 |
2011 |
Baller-Gerold syndrome
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene.
|
27247962 |
2016 |
Baller-Gerold syndrome
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
We performed RECQL4 mutation detection in a patient with BGS and several clinical signs of RTS who developed a midline NK/T-cell lymphoma.
|
19291770 |
2009 |
Baller-Gerold syndrome
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome.
|
10319867 |
1999 |
Baller-Gerold syndrome
|
0.770 |
GeneticVariation
|
disease |
CLINVAR |
Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome.
|
12734318 |
2003 |
Baller-Gerold syndrome
|
0.770 |
GeneticVariation
|
disease |
CLINVAR |
Rothmund-Thomson syndrome due to RECQ4 helicase mutations: report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome.
|
10678659 |
2000 |
Baller-Gerold syndrome
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
Rothmund-thomson syndrome: a 13-year follow-up.
|
25120469 |
2014 |
Baller-Gerold syndrome
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
Rothmund-Thomson syndrome and osteoma cutis in a patient previously diagnosed as COPS syndrome.
|
28039508 |
2017 |
Baller-Gerold syndrome
|
0.770 |
GeneticVariation
|
disease |
CLINVAR |
The mutation spectrum in RECQL4 diseases.
|
18716613 |
2009 |
Baller-Gerold syndrome
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
Rothmund-Thomson syndrome due to RECQ4 helicase mutations: report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome.
|
10678659 |
2000 |
Baller-Gerold syndrome
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
Long-term follow-up and molecular characterization of a patient with a RECQL4 mutation spectrum disorder.
|
23899764 |
2013 |
Baller-Gerold syndrome
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
Novel physiological RECQL4 alternative transcript disclosed by molecular characterisation of Rothmund-Thomson Syndrome sibs with mild phenotype.
|
24518840 |
2014 |
Baller-Gerold syndrome
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
Because patients with RAPADILINO syndrome and a subset of patients with RTS have RECQL4 mutations, we reassessed two previously reported BGS families and found causal mutations in RECQL4 in both.
|
15964893 |
2006 |
Baller-Gerold syndrome
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
Generalized metabolic bone disease and fracture risk in Rothmund-Thomson syndrome.
|
28486640 |
2017 |