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   Articles with "overgrowth syndrome" as a keyword



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Global misregulation of genes largely uncoupled to DNA methylome epimutations characterizes a congenital overgrowth syndrome

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recommendations! Published in 2017 at "Scientific Reports"

DOI: 10.1038/s41598-017-13012-z

Abstract: Assisted reproductive therapies (ART) have become increasingly common worldwide and numerous retrospective studies have indicated that ART-conceived children are more likely to develop the overgrowth syndrome Beckwith-Wiedemann (BWS). In bovine, the use of ART can… read more here.

Keywords: methylome epimutations; overgrowth syndrome; dna methylome; misregulation ... See more keywords
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Melanoma in a patient with DNMT3A overgrowth syndrome.

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recommendations! Published in 2023 at "Cold Spring Harbor molecular case studies"

DOI: 10.1101/mcs.a006267

Abstract: Alterations in epigenetic regulators are increasingly recognized as early events in tumorigenesis; thus, patients with acquired or inherited variants in epigenetic regulators may be at increased risk for developing multiple types of cancer. DNMT3A overgrowth… read more here.

Keywords: dnmt3a overgrowth; melanoma patient; dnmt3a; overgrowth syndrome ... See more keywords
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Atypical neurofibromatosis type 1 with unilateral limb hypertrophy mimicking overgrowth syndrome

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recommendations! Published in 2017 at "Clinical and Experimental Dermatology"

DOI: 10.1111/ced.13154

Abstract: Neurofibromatosis type 1 (NF1; OMIM 162200), a dominantly inherited multitumor syndrome, results from mutations in the Neurofibromin 1 (NF1) gene. We present the case of a Hungarian woman with the clinical phenotype of NF1 over… read more here.

Keywords: unilateral limb; type unilateral; neurofibromatosis type; overgrowth syndrome ... See more keywords
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Loss of function variant in SPIN4 causes an X-linked overgrowth syndrome.

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recommendations! Published in 2023 at "JCI insight"

DOI: 10.1172/jci.insight.167074

Abstract: Overgrowth syndromes can be caused by pathogenic genetic variants in epigenetic writers, such as DNA and histone methyltransferases. However, no overgrowth disorder has previously been ascribed to variants in a gene that acts primarily as… read more here.

Keywords: growth; spin4 causes; loss; variant ... See more keywords