Condition: Beckwith-Wiedemann Syndrome


rs104894200 in CDKN1C gene and Beckwith-Wiedemann Syndrome PMID 9341892 1997 New p57KIP2 mutations in Beckwith-Wiedemann syndrome.

PMID 26077438 2015 Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization.

PMID 10424811 1999 Analysis of germline CDKN1C (p57KIP2) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation.

rs1554189512 in NSD1 gene and Beckwith-Wiedemann Syndrome PMID 16232326 2005 Spectrum of NSD1 gene mutations in southern Chinese patients with Sotos syndrome.

PMID 16247291 2005 NSD1 analysis for Sotos syndrome: insights and perspectives from the clinical laboratory.

PMID 15742365 2005 Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth.

PMID 15942875 2005 Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations.

PMID 28475857 2017 Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.

PMID 21972110 2011 NSD1 PHD domains bind methylated H3K4 and H3K9 using interactions disrupted by point mutations in human sotos syndrome.

PMID 22924495 2012 Translation of a research-based genetic test on a rare syndrome into clinical service testing, with sotos syndrome as an example.

PMID 12464997 2003 NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes.

PMID 14571271 2003 Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes.

PMID 12807965 2003 Spectrum of NSD1 mutations in Sotos and Weaver syndromes.

PMID 21196496 2011 The structure of NSD1 reveals an autoregulatory mechanism underlying histone H3K36 methylation.

PMID 26690673 2015 NSD1 mutations generate a genome-wide DNA methylation signature.

PMID 24412544 2014 Substrate specificity analysis and novel substrates of the protein lysine methyltransferase NSD1.

PMID 27604501 2016 Somatic-gonadal mosaicism causing Sotos syndrome.