Overviews

• 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
• Sotos Syndrome Infographic by the Child Growth Foundation

Medical Articles

• 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

Medical Abstracts

• 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
• What is Sotos Syndrome by the Child Growth Foundation

Research Centers

• University of Nebraska Medical Center
•  Waisman Center – University of Wisconsin
• Genetics Education Center – University of Kansas
• Child Growth Foundation