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Last Updated: 10/31/2025
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Found 562 publications
The Opposite Phenotype of Sotos Syndrome: 5q35.2q35.3 Microduplication Syndrome.
Journal: Journal of clinical research in pediatric endocrinology
Published: September 25, 2025
Understanding Seizures in Malan Syndrome Through Caregiver Reports: A Cross-Sectional Study.
Journal: Journal of child neurology
Published: September 23, 2025
The Behavioral Phenotype and Importance of Multidisciplinary Care in Patients With Sotos Syndrome: A Single-Center Experience.
Journal: American journal of medical genetics. Part A
Published: April 28, 2025
Pilomatricoma in Syndromic Contexts: A Literature Review and a Report of a Case in Apert Syndrome.
Journal: Dermatopathology (Basel, Switzerland)
Published: April 14, 2025
Sotos Syndrome With NSD1 Mutations in a Chinese Cohort: Identification of Two Novel Mutations and Literature Review.
Journal: International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience
Published: March 26, 2025
Case report: ocular manifestations of NFIX-associated Malan syndrome.
Journal: Ophthalmic genetics
Published: March 24, 2025
Orofacial Dyskinesia in a Patient With Sotos Syndrome Treated With Methylphenidate.
Journal: Journal of clinical psychopharmacology
Published: March 24, 2025
Paraspeckle protein NONO regulates active chromatin by allosterically stimulating NSD1.
Journal: Cell reports
Published: February 24, 2025
Prenatal Exome Sequencing for Fetal Macrocephaly: A Large Prospective Observational Cohort Study.
Journal: Prenatal diagnosis
Published: February 12, 2025
A Novel Deep Intronic Variant in NSD1 Causing Sotos Syndrome.
Journal: American journal of medical genetics. Part A
Published: January 16, 2025
Intravenous Sedation in a Patient With Sotos Syndrome and Intellectual Disability: A Case Report.
Journal: Cureus
Published: December 29, 2024
Nasolacrimal Duct Obstruction in a Patient With Sotos Syndrome.
Journal: Ophthalmic plastic and reconstructive surgery
Published: December 27, 2024
Last Updated: 10/31/2025