Overgrowth syndromes, diagnosis and management
SD Klein, A Nisbet, JM Kalish - Current opinion in pediatrics, 2023 - journals.lww.com
Overgrowth syndromes, diagnosis and management : Current Opinion in Pediatrics
Overgrowth syndromes, diagnosis and management : Current Opinion in Pediatrics Log in or …
Overgrowth syndromes, diagnosis and management : Current Opinion in Pediatrics Log in or …
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 …
Growth retardation associated with a novel DNMT3A variation in a Chinese boy: A case report
LX Wang, W Yang, H Zhang - 2023 - researchsquare.com
Background The human gene DNMT3A (DNA methyltransferase 3 alpha) is involved in DNA
de novo methylation essential for genome regulation and development. Pathogenic variants …
de novo methylation essential for genome regulation and development. Pathogenic variants …