Links to Medical & Research Resources
- Database for rare diseases of the Swedish National Board of Health and Welfare : Sotos Syndrome Overview
- National Institute of Neurological Disorders and Stroke – Sotos Syndrome Information Page
- NCBI Gene Reviews: Sotos Syndrome
- Genetic Disorders A to Z : Genetics Home Reference: Sotos Syndrome
- The National Organization for Rare Disorders : Sotos Syndrome Overview
- Study Video for U.S. Medical Licensing Exam by Paul Bolin 2015
- Further Delineation of Malan Syndrome (2018), By Tatton-Brown, Cole and others.
- Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability (2017) The American Journal of Human Genetics, By: Tatton-Brown, Loveday, Yost…Cole…and others.
- GEMS…(2015) – Sotos at a Glance
- The Behavioral Characteristics of Sotos syndrome …(2015) American Journal of Medicine By: Sheth, Moss, Hyland, Stinton, Cole and Oliver
- European Journal of Human Genetics: Sotos syndrome (2007) By: Katrina Tatton-Brown and Nazneen Rahman
- Psychosocial, cognitive, and motor functioning in patients with suspected Sotos syndrome:… (2006) By:de Boer L, Roder I, Wit JM.
- Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals… (2005) Tatton-Brown K, Douglas J, Coleman K, Baujat G, Cole TR, Das S, et. al.
- NSD1 analysis for Sotos syndrome: Insights and perspectives from the clinical laboratory (2005) By: G Bradley Schaefer, et al
- Sotos Syndrome Synonym: Cerebral Gigantism (2004) By: Katrina Tatton-Brown, BM BCh, MD, Trevor RP Cole, MB ChB, and Nazneen Rahman, BM BCh, PhD.
- Sotos syndrome and haploinsufficiency of NSD1: clinical features of intragenic mutations and submicroscopic deletions By: N Kurotaki, et. al (2003)
- Spectrum of NSD1 Mutations in Sotos and Weaver Syndromes (2003), By Rio, Clech, Amiel and others.
- (2002) NSD1 Mutations Are the Major Cause of Sotos Syndrome and Occur in Some Cases of Weaver Syndrome but Are Rare in Other Overgrowth Phenotypes By: Cole TR, et al
- Anaesthesia (2001) Sotos Syndrome….A Rare Challenge By: Varvinski, J. McGill, Judd, Hodzovic
- Growth in Sotos Syndrome (1999) By: Agwu JC, Shaw NJ, Kirk J, Chapman S, Ravine D, Cole TR.
- Sotos Syndrome – Wikipedia
- The Cognitive Profile of Sotos Syndrome (2018) By Lane, Milne, Freeth.
- The Behavioral Characteristics of Sotos Syndrome (2015), By Cole, Sheth, Moss, Hyland, Stinton, Oliver.
- Adults with Sotos syndrome: Review of 21 adults with molecularly confirmed NSD1 alterations, including a detailed case report of the oldest person (2011) By: Angela Lin, et al
- Haploinsufficiency of NSD1 causes Sotos syndrome (2002) By: Kurotaki, et al
Am J Med Genet. (1997) The Neuroimaging Findings in Sotos Syndrome By: Schaefer GB, Bodensteiner JB, Buehler BA, Lin A, Cole TR.
Other Interesting Articles
- Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature (2014) By: Klassens, Morrow, et al
- Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes (2016) By: Martinez, Marina-Riena et al
Sotos Association – L’Eveil – France
Asociacion Sotos – Spain
ASSI Gulliver – Italy
SSSA does not endorse any of the medication, diagnostic procedures, treatments or products reported on any of these linked sites. The information is intended only to keep you informed. We strongly advise that you check any medication, diagnostic procedures or treatments with your physician.