[HTML][HTML] Aortic disease and cardiomyopathy in patients with a novel DNMT3A gene variant causing Tatton-Brown–Rahman syndrome
D Zebrauskiene, E Sadauskiene, J Dapkunas… - Clinical …, 2024 - ncbi.nlm.nih.gov
Abstract Tatton-Brown–Rahman syndrome (TBRS) is a rare congenital genetic disorder
caused by autosomal dominant pathogenic variants in the DNA methyltransferase DNMT3A …
caused by autosomal dominant pathogenic variants in the DNA methyltransferase DNMT3A …
Aortic root dilatation and dilated cardiomyopathy in an adult with Tatton‐Brown‐Rahman syndrome
Abstract Tatton‐Brown‐Rahman syndrome is an autosomal dominant overgrowth syndrome
caused by pathogenic DNMT3A variants in the germline. Clinical findings of tall stature due …
caused by pathogenic DNMT3A variants in the germline. Clinical findings of tall stature due …
Arterial aneurysm and dissection: toward the evolving phenotype of Tatton-Brown-Rahman syndrome
V Totten, G Teixido-Tura, F Lopez-Grondona… - Journal of Medical …, 2024 - jmg.bmj.com
Background Tatton-Brown-Rahman syndrome (TBRS) is a rare disorder, caused by
DNMT3A heterozygous pathogenic variants, and first described in 2014. TBRS is …
DNMT3A heterozygous pathogenic variants, and first described in 2014. TBRS is …
Methylation signatures in clinically variable syndromic disorders: a familial DNMT3A variant in two adults with Tatton-Brown–Rahman syndrome
C Kumps, E D'haenens, J Kerkhof… - European Journal of …, 2023 - nature.com
Tatton-Brown-Rahman syndrome (TBRS; OMIM# 615879) is a rare overgrowth and
intellectual disability (ID) syndrome caused by heterozygous loss-of-function variants in the …
intellectual disability (ID) syndrome caused by heterozygous loss-of-function variants in the …
Expanding the phenotype of DNMT3A as a cause a congenital myopathy with rhabdomyolysis
R Ghaoui, TT Ha, J Kerkhof, H McConkey, S Gao… - Neuromuscular …, 2023 - Elsevier
Pathogenic variants in DNMT3A are most commonly associated with Tatton-Brown-Rahman
Syndrome (TBRS), but includes other phenotypes such as Heyn-Sproul-Jackson syndrome …
Syndrome (TBRS), but includes other phenotypes such as Heyn-Sproul-Jackson syndrome …
Novel DNMT3A germline mutations are associated with inherited Tatton‐Brown–Rahman syndrome
B Xin, T Cruz Marino, J Szekely, J Leblanc… - Clinical …, 2017 - Wiley Online Library
Tatton‐Brown–Rahman syndrome (TBRS) was recently described in 13 isolated cases with
de novo mutations in the DNMT3A gene. This autosomal dominant condition is …
de novo mutations in the DNMT3A gene. This autosomal dominant condition is …
An adult patient with Tatton–Brown–Rahman syndrome caused by a novel DNMT3A variant and axonal polyneuropathy
AA AlSabah, M Alsalmi, R Massie… - American Journal of …, 2024 - Wiley Online Library
Abstract Tatton–Brown–Rahman syndrome (TBRS) is a rare autosomal dominant
overgrowth syndrome first reported in 2014 and caused by pathogenic variants in the DNA …
overgrowth syndrome first reported in 2014 and caused by pathogenic variants in the DNA …
Clinical Case of Mild Tatton–Brown–Rahman Syndrome Caused by a Nonsense Variant in DNMT3A Gene
F Bostanova, O Levchenko, M Sharova… - Clinics and Practice, 2024 - mdpi.com
Tatton–Brown–Rahman syndrome is a rare autosomal dominant hereditary disease caused
by pathogenic variants in the DNMT3A gene, which is an important participant in epigenetic …
by pathogenic variants in the DNMT3A gene, which is an important participant in epigenetic …
Acute myeloid leukaemia in a case with Tatton-Brown-Rahman syndrome: the peculiar DNMT3A R882 mutation
IHIM Hollink, AMW van den Ouweland… - Journal of medical …, 2017 - jmg.bmj.com
Background Recently a novel syndromic form of overgrowth with intellectual disability and
distinct facial features was identified caused by constitutional mutations in the epigenetic …
distinct facial features was identified caused by constitutional mutations in the epigenetic …
Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patients
H Thomas, T Alix, É Renard, M Renaud… - Journal of Medical …, 2024 - jmg.bmj.com
Background Tatton-Brown-Rahman syndrome (TBRS; OMIM 615879), also known as DNA
methyltransferase 3 alpha (DNMT3A)-overgrowth syndrome (DOS), was first described by …
methyltransferase 3 alpha (DNMT3A)-overgrowth syndrome (DOS), was first described by …
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