Sotos Syndrome Latest Advances

Find the Latest Research About Sotos Syndrome

Last Updated: 09/19/2026

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Found 576 publications

Unmasked Behavioral Disturbance Following Traumatic Brain Injury in an Adult With Previously Undiagnosed Sotos Syndrome.

Unmasked Behavioral Disturbance Following Traumatic Brain Injury in an Adult With Previously Undiagnosed Sotos Syndrome.

Journal: Cureus

Published: July 20, 2026

A Case of Sotos Syndrome With Right Shoulder Disarticulation Due to a High-Grade Malignant Peripheral Nerve Sheath Tumor in the Right Arm and Shoulder.

A Case of Sotos Syndrome With Right Shoulder Disarticulation Due to a High-Grade Malignant Peripheral Nerve Sheath Tumor in the Right Arm and Shoulder.

Journal: Cureus

Published: July 05, 2026

Sotos syndrome: Report of a new pathogenic variant in the NSD1 gene in an adolescent.

Sotos syndrome: Report of a new pathogenic variant in the NSD1 gene in an adolescent.

Journal: Archivos argentinos de pediatria

Published: May 19, 2026

Correction: Beyond the known phenotype of sotos syndrome: a 31-individuals cohort study.

Correction: Beyond the known phenotype of sotos syndrome: a 31-individuals cohort study.

Journal: Frontiers in pediatrics

Published: May 14, 2026

Diffuse hemispheric glioma, H3 G34-mutant, in Simpson-Golabi-Behmel syndrome: the first reported case.

Diffuse hemispheric glioma, H3 G34-mutant, in Simpson-Golabi-Behmel syndrome: the first reported case.

Journal: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery

Published: April 13, 2026

Sotos and Malan Syndromes in Childhood: Molecular and Clinical Findings From a Nationwide Cohort of 48 Patients.

Sotos and Malan Syndromes in Childhood: Molecular and Clinical Findings From a Nationwide Cohort of 48 Patients.

Journal: Clinical genetics

Published: February 09, 2026

Biallelic Inactivation of NSD1 Associated With Carcinogenesis in Sotos Syndrome.

Biallelic Inactivation of NSD1 Associated With Carcinogenesis in Sotos Syndrome.

Journal: Pediatric blood & cancer

Published: February 03, 2026

Joint hypermobility as a manifestation of neonatal Sotos syndrome.

Joint hypermobility as a manifestation of neonatal Sotos syndrome.

Journal: BMJ case reports

Published: December 31, 2025

A Case of Malan Syndrome With Pulmonary Artery Dilatation due to a Novel Frameshift Variant in Exon 2 of the NFIX Gene.

A Case of Malan Syndrome With Pulmonary Artery Dilatation due to a Novel Frameshift Variant in Exon 2 of the NFIX Gene.

Journal: Case reports in genetics

Published: November 04, 2025

Nephrocalcinosis in a Child with Sotos Syndrome: A Case Report of Contiguous Gene Syndrome Encompassing NSD1 and SLC34A1 Genes.

Nephrocalcinosis in a Child with Sotos Syndrome: A Case Report of Contiguous Gene Syndrome Encompassing NSD1 and SLC34A1 Genes.

Journal: Journal of clinical medicine

Published: October 12, 2025

First Korean Case of 5q35.2q35.3 Microduplication With Reversed Sotos Syndrome Phenotype and Growth Hormone Deficiency: Expanding the Endocrine Spectrum.

First Korean Case of 5q35.2q35.3 Microduplication With Reversed Sotos Syndrome Phenotype and Growth Hormone Deficiency: Expanding the Endocrine Spectrum.

Journal: American journal of medical genetics. Part A

Published: September 29, 2025

Clinical characterization and developmental follow-up of a child with Sotos syndrome carrying a novel NSD1 variant.

Clinical characterization and developmental follow-up of a child with Sotos syndrome carrying a novel NSD1 variant.

Journal: BMC pediatrics

Published: September 26, 2025

Showing 1-12 of 576

Last Updated: 09/19/2026