Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion.

European journal of human genetics : EJHG - 1 Feb 2010

Franco Luis M, de Ravel Thomy, Graham Brett H, Frenkel Stephanie M, Van Driessche Jozef, Stankiewicz Pawel, Lupski James R, Vermeesch Joris R, Cheung Sau Wai

Abstract excerpt

Genomic rearrangements are an increasingly recognized mechanism of human phenotypic variation and susceptibility to disease. Sotos syndrome is characterized by overgrowth, macrocephaly, developmental delay and advanced osseous maturation. Haploinsufficiency of NSD1, caused by inactivating point mutations or deletion copy number variants, is the only known cause of Sotos syndrome. A recurrent 2 Mb deletion has...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Body Height
Share to Chromosomes, Human, Pair 5

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Histone-Lysine N-Methyltransferase

Share to Histone Methyltransferases

Share to Language Development Disorders

Share to Microcephaly

Share to Segmental Duplications, Genomic

Source

Open in PubMed Open full text

Identifiers

PMID: 19844260
DOI: 10.1038/ejhg.2009.164
PMCID: PMC2987195

Genes

NSD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion.PMID 19844260Read ↗

Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion.Semantic proximity Read ↗

The phenotypic spectrum of duplication 5q35.2-q35.3 encompassing NSD1: is it really a reversed Sotos syndrome?Semantic proximity Read ↗

Spectrum of NSD1 mutations in Sotos and Weaver syndromes.Semantic proximity Read ↗

Reversed clinical phenotype due to a microduplication of Sotos syndrome region detected by array CGH: microcephaly, developmental delay and delayed bone age.Semantic proximity Read ↗

Identification of Novel NSD1 variations in four Pediatric cases with sotos Syndrome.Semantic proximity Read ↗

NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes.Semantic proximity Read ↗

A series of four patients with Sotos syndrome harboring novel NSD1 mutations: clinical and molecular description.Semantic proximity Read ↗

Reversal of Clinical Phenotype of Sotos Syndrome Due to Microduplication of NSD1 Gene.Semantic proximity Read ↗

Sotos syndrome.Semantic proximity Read ↗

A boy with Silver-Russell syndrome and Sotos syndrome.Semantic proximity Read ↗

Identification of a novel de novo nonsense mutation of the NSD1 gene in monozygotic twins discordant for Sotos syndrome.Semantic proximity Read ↗

Patient with dup(5)(q35.2-q35.3) reciprocal to the common Sotos syndrome deletion and review of the literature.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.