Expanding the Clinical Spectrum of Sotos Syndrome in a Patient with the New “c.[5867T>A]+[=]”; “p.[Leu1956Gln]+[=]” NSD1 Missense Mutation and Complex Skin Hamartoma

Two novel cases expanding the phenotype of SETD2 -related overgrowth syndrome

(2018) Maartje C. van Rij et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A Child with a c.6923_6928dup (p.Arg2308_Met2309dup) SPTAN1 Mutation Associated with a Severe Early Infantile Epileptic Encephalopathy

(2018) Valentina Rapaccini et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Dermatological manifestations of tuberous sclerosis complex (TSC)

(2017) Daniel Ebrahimi-Fakhari et al.   JOURNAL DER DEUTSCHEN DERMATOLOGISCHEN GESELLSCHAFT

Differentiating the mTOR inhibitors everolimus and sirolimus in the treatment of tuberous sclerosis complex

(2015) Jeffrey P. MacKeigan et al.   NEURO-ONCOLOGY

Tuberous Sclerosis Complex Diagnostic Criteria Update: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference

(2013) Hope Northrup et al.   PEDIATRIC NEUROLOGY

Overgrowth syndromes

(2012) Orla M. Neylon et al.   CURRENT OPINION IN PEDIATRICS

A Clinical Study of Sotos Syndrome Patients With Review of the Literature

(2009) George Leventopoulos et al.   PEDIATRIC NEUROLOGY