Associated Papers
Sotos syndrome with marked overgrowth in three Japanese patients with heterozygous likely pathogenic NSD1 variants: case reports with review of literature.
Masunaga Y et al.
Endocrine Journal, 2024
A novel nonsense variant in NSD1 gene in a female child with Sotos syndrome: A case report and literature review.
Liu X et al.
Brain and Behavior, 2023
NSD1 gene evolves under episodic selection within primates and mutations of specific exons in humans cause Sotos syndrome.
Romero VI et al.
Bmc Genomics, 2022
36550402 (PubMed )
Supplement: 12864_2022_9071_MOESM2_ESM.xlsx › Sup_Table_1
A nonsense variant in the second exon of the canonical transcript of NSD1 does not cause Sotos syndrome.
Ruhrman-Shahar N et al.
American Journal of Medical Genetics. Part A, 2022
PEDIA: prioritization of exome data by image analysis.
Hsieh TC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
31164752 (PubMed )
Supplement: 41436_2019_566_MOESM2_ESM.xlsx › Sheet1
A Novel Missense Mutation of the NSD1 Gene Associated with Overgrowth in Three Generations of an Italian Family: Case Report, Differential Diagnosis, and Review of Mutations of NSD1 Gene in Familial Sotos Syndrome.
Laccetta G et al.
Frontiers in Pediatrics, 2017
Translation of a research-based genetic test on a rare syndrome into clinical service testing, with sotos syndrome as an example.
Pohjola P et al.
Genetic Testing and Molecular Biomarkers, 2012
Two cases of Sotos syndrome with novel mutations of the NSD1 gene.
Fryssira H et al.
Genetic Counseling (geneva, Switzerland), 2010
The first Japanese familial Sotos syndrome with a novel mutation of the NSD1 gene.
Tei S et al.
The Kobe Journal of Medical Sciences, 2006
NSD1 mutations in Sotos syndrome.
Faravelli F
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2005
Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion.
Kurotaki N et al.
Human Mutation, 2003
Identification of eight novel NSD1 mutations in Sotos syndrome.
Kamimura J et al.
Journal of Medical Genetics, 2003
Familial Sotos syndrome is caused by a novel 1 bp deletion of the NSD1 gene.
Höglund P et al.
Journal of Medical Genetics, 2003
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