Acute myeloid leukaemia in a case with Tatton-Brown-Rahman syndrome: the peculiar

Autor:	Iris H I M, Hollink, Ans M W, van den Ouweland, H Berna, Beverloo, Susan T C J M, Arentsen-Peters, C Michel, Zwaan, Anja, Wagner
Rok vydání:	2017
Předmět:	Male Genotype Karyotype Facies Syndrome Polymorphism Single Nucleotide DNA Methyltransferase 3A Leukemia Myeloid Acute Young Adult Phenotype Intellectual Disability Mutation Exome Sequencing Humans DNA (Cytosine-5-)-Methyltransferases
Zdroj:	Journal of medical genetics. 54(12)
ISSN:	1468-6244
Popis:	Recently a novel syndromic form of overgrowth with intellectual disability and distinct facial features was identified caused by constitutional mutations in the epigenetic regulator DNA-methyltransferase 3A (Here we present the first case of TBRS who developed AML at the age of 15 years. Whole-exome sequencing identified a constitutional heterozygousThe peculiarity of the specific R882 mutation in contrast to other
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::f876a6c2c05884e09c6aa81150f2817a https://pubmed.ncbi.nlm.nih.gov/28432085 Zobrazit plný text záznamu