Epileptic encephalopathy with spike-and-wave activation in sleep associated with Tatton-Brown-Rahman syndrome responsive to highly purified cannabidiol.

DNMT3A R882C variant in a patient with a presumed pineal gland tumor, highlighting potential tumor susceptibility in Tatton-Brown-Rahman syndrome.

Familial pneumothorax in twins with Tatton-Brown-Rahman DNMT3A overgrowth syndrome.

Expanding the Malignancy Spectrum of Tatton-Brown-Rahman Syndrome: A Case of Hodgkin Lymphoma.

Tatton-Brown-Rahman Syndrome Due to a Novel DNMT3A Variant Presenting With Autism, Attention-Deficit/Hyperactivity Disorder (ADHD), and Regression: A Saudi Case Report.

Tatton-Brown-Rahman-Syndrome-associated DNMT3A mutations de-repress cortical interneuron differentiation to disrupt neuronal network function.

Overgrowth-intellectual disability disorders: progress in biology, patient advocacy and innovative therapies.

Stability and DNA Methyltransferase Activity of DNMT3A are Maintained by Ubiquitin-Specific Peptidase 11 (USP11) and Sumoylation Countering Degradation.

From Serendipity to Scalability in Rare Disease Patient Collaborations.

Case Report: A case of Tatton-Brown-Rahman syndrome featuring mitral annular disjunction and mitral valve prolapse due to a novel mutation site in the DNMT3A gene.

Tatton-Brown-Rahman syndrome: A new multiple endocrine neoplasia syndrome with intellectual disability?

Ultra-rare monogenic disorders frequently detected among sex chromosome aneuploidy patients with atypical findings.

DNMT3A-related overgrowth syndrome presenting with immune thrombocytopenic purpura.

Comparison of Genetic, Auditory Features, and Systemic Clinical Phenotype in 14 Families with Syndromic Hearing Loss.

Arterial aneurysm and dissection: toward the evolving phenotype of Tatton-Brown-Rahman syndrome.

Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patients.

Aortic disease and cardiomyopathy in patients with a novel DNMT3A gene variant causing Tatton-Brown-Rahman syndrome.

Epilepsy and overgrowth-intellectual disability syndromes: a patient organization perspective on collaborating to accelerate pathways to treatment.

Clinical Case of Mild Tatton-Brown-Rahman Syndrome Caused by a Nonsense Variant in DNMT3A Gene.

Skeletal abnormalities in mice with Dnmt3a missense mutations.

An adult patient with Tatton-Brown-Rahman syndrome caused by a novel DNMT3A variant and axonal polyneuropathy.

The Role of Clonal Hematopoiesis of Indeterminant Potential and DNA (Cytosine-5)-Methyltransferase Dysregulation in Pulmonary Arterial Hypertension and Other Cardiovascular Diseases.

Tatton-Brown-Rahman syndrome: Novel pathogenic variants and new neuroimaging findings.

Methylation signatures in clinically variable syndromic disorders: a familial DNMT3A variant in two adults with Tatton-Brown-Rahman syndrome.

Epigenetic Causes of Overgrowth Syndromes.

A novel pathogenic variant of DNMT3A associated with craniosynostosis: a case report of Heyn-Sproul-Jackson syndrome.

Sensory processing in Sotos syndrome and Tatton-Brown-Rahman Syndrome.

Expanding the phenotype of DNMT3A as a cause a congenital myopathy with rhabdomyolysis.

Treatment of Primary Hyperparathyroidism in the Setting of Tatton-Brown-Rahman Syndrome.

Case Report: The success of face analysis technology in extremely rare genetic diseases in Korea: Tatton-Brown-Rahman syndrome and Say-Barber -Biesecker-Young-Simpson variant of ohdo syndrome.

[Tatton-Brown-Rahman Syndrome: Case report and DNMT3A variant not previously reported associated to the syndrome].

Constitutive loss of DNMT3A causes morbid obesity through misregulation of adipogenesis.

The Epigenetic Role of Vitamin C in Neurodevelopment.

Case Report: Bilateral Epiphysiodesis Due to Extreme Tall Stature in a Girl With a De Novo DNMT3A Variant Associated With Tatton-Brown-Rahman Syndrome.

Aortic root dilatation and dilated cardiomyopathy in an adult with Tatton-Brown-Rahman syndrome.

Perturbed hematopoiesis in individuals with germline DNMT3A overgrowth Tatton-Brown-Rahman syndrome.

Dnmt3a deficiency in the skin causes focal, canonical DNA hypomethylation and a cellular proliferation phenotype.

[Tatton-Brown-Rahman syndrome associated with the DNMT3A gene: a case report and literature review].

Behavioral and dental management of a patient with Tatton-Brown-Rahman syndrome: Case report.

Tatton-Brown-Rahman syndrome with a novel DNMT3A mutation presented severe intellectual disability and autism spectrum disorder.

Tatton-Brown-Rahman syndrome: Six individuals with novel features.

First identified Korean family with Tatton-Brown-Rahman Syndrome caused by the novel DNMT3A variant c.118G>C p.(Glu40Gln).

Acromegaly in the setting of Tatton-Brown-Rahman Syndrome.

Tatton-Brown-Rahman syndrome: cognitive and behavioural phenotypes.

Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients.

PRC2 functions in development and congenital disorders.

The histone mark H3K36me2 recruits DNMT3A and shapes the intergenic DNA methylation landscape.

Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging.

The first case report of medulloblastoma associated with Tatton-Brown-Rahman syndrome.

The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants.

Co-occurrence of a maternally inherited DNMT3A duplication and a paternally inherited pathogenic variant in EZH2 in a child with growth retardation and severe short stature: atypical Weaver syndrome or evidence of a DNMT3A dosage effect?

The spectrum of DNMT3A variants in Tatton-Brown-Rahman syndrome overlaps with that in hematologic malignancies.

A case of familial transmission of the newly described DNMT3A-Overgrowth Syndrome.

Acute myeloid leukaemia in a case with Tatton-Brown-Rahman syndrome: the peculiar DNMT3A R882 mutation.

Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome.

Novel DNMT3A germline mutations are associated with inherited Tatton-Brown-Rahman syndrome.

Tatton-Brown-Rahman syndrome due to 2p23 microdeletion.