Condition: SOTOS SYNDROME 1


rs1057516048 in NSD1 gene and SOTOS SYNDROME 1 PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

PMID 14997421 2004 Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome.

PMID 11896389 2002 Haploinsufficiency of NSD1 causes Sotos syndrome.

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

PMID 26896805 2016 Structural basis for PHDVC5HCHNSD1-C2HRNizp1 interaction: implications for Sotos syndrome.

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

PMID 17565729 2007 Heterogeneity of NSD1 alterations in 116 patients with Sotos syndrome.

PMID 14627693 2003 Identification of eight novel NSD1 mutations in Sotos syndrome.

PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.

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

PMID 26257172 2015 Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.