Sotos Syndrome Latest Advances

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.

Journal: BMJ case reports

Published: December 31, 2025

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.

Journal: American journal of medical genetics. Part A

Published: September 29, 2025

The Opposite Phenotype of Sotos Syndrome: 5q35.2q35.3 Microduplication Syndrome.

Journal: Journal of clinical research in pediatric endocrinology

Published: September 25, 2025

Familial NSD1 Exon 3 Deletion Associated with Phenotypic and Epigenetic Variability.

Journal: Genes

Published: August 06, 2025

Prenatal Diagnosis of Sotos Syndrome: Integrating Chromosomal Microarray Analysis and Exome Sequencing.

Journal: Prenatal diagnosis

Published: July 28, 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

Identification of a novel NSD1 pathogenic variant in a Senegalese child with Sotos syndrome.

Journal: Journal, genetic engineering & biotechnology

Published: April 25, 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

Sotos Syndrome Latest Advances

Find the Latest Research About Sotos Syndrome

Biallelic Inactivation of NSD1 Associated With Carcinogenesis in Sotos Syndrome.

Biallelic Inactivation of NSD1 Associated With Carcinogenesis in Sotos Syndrome.

Joint hypermobility as a manifestation of neonatal Sotos syndrome.

Joint hypermobility as a manifestation of neonatal Sotos syndrome.

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.

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.

The Opposite Phenotype of Sotos Syndrome: 5q35.2q35.3 Microduplication Syndrome.

The Opposite Phenotype of Sotos Syndrome: 5q35.2q35.3 Microduplication Syndrome.

Familial NSD1 Exon 3 Deletion Associated with Phenotypic and Epigenetic Variability.

Familial NSD1 Exon 3 Deletion Associated with Phenotypic and Epigenetic Variability.

Prenatal Diagnosis of Sotos Syndrome: Integrating Chromosomal Microarray Analysis and Exome Sequencing.

Prenatal Diagnosis of Sotos Syndrome: Integrating Chromosomal Microarray Analysis and Exome Sequencing.

The Behavioral Phenotype and Importance of Multidisciplinary Care in Patients With Sotos Syndrome: A Single-Center Experience.

The Behavioral Phenotype and Importance of Multidisciplinary Care in Patients With Sotos Syndrome: A Single-Center Experience.

Identification of a novel NSD1 pathogenic variant in a Senegalese child with Sotos syndrome.

Identification of a novel NSD1 pathogenic variant in a Senegalese child with Sotos syndrome.

Pilomatricoma in Syndromic Contexts: A Literature Review and a Report of a Case in Apert Syndrome.

Pilomatricoma in Syndromic Contexts: A Literature Review and a Report of a Case in Apert Syndrome.

Sotos Syndrome With NSD1 Mutations in a Chinese Cohort: Identification of Two Novel Mutations and Literature Review.

Sotos Syndrome With NSD1 Mutations in a Chinese Cohort: Identification of Two Novel Mutations and Literature Review.

Case report: ocular manifestations of NFIX-associated Malan syndrome.

Case report: ocular manifestations of NFIX-associated Malan syndrome.