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

Marked phenotypic variable expression among brothers with duplication of Xq27.1 involving the SOX3 gene.

Journal of pediatric endocrinology & metabolism : JPEM - 26 Mar 2020

Rosolowsky Elizabeth T, Stein Robert, Marks Seth D, Leonard Norma

Abstract excerpt

We describe four phenotypically different brothers who share the same microduplication of Xq27.1, which contains the SOX3 gene. SOX3 mutations have been associated with growth hormone deficiency, variable degrees of additional pituitary hormone deficiencies, and mental retardation. SOX3 also appears to play an important role in pharyngeal arch segmentation that gives rise to craniofacial structures. While these...

Read the complete abstract on PubMed

Topics

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

Share to Brain
Share to Craniofacial Abnormalities

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Gene Duplication

Share to Hypopituitarism

Share to Infant

Share to Magnetic Resonance Imaging

Share to Siblings

Share to SOXB1 Transcription Factors

Source

Identifiers

PMID: 26352083
DOI: 10.1515/jpem-2015-0131

Genes

SOX3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Marked phenotypic variable expression among brothers with duplication of Xq27.1 involving the SOX3 gene.PMID 26352083Read ↗

Diverse SOX3 genetic variants and their associated phenotypic spectrum in human disease.Semantic proximity Read ↗

Xq27.1 Duplication Encompassing SOX3: Variable Phenotype and Smallest Duplication Associated with Hypopituitarism to Date – A Large Case Series of Unrelated Patients and a Literature ReviewSemantic proximity Read ↗

Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism.Semantic proximity Read ↗

SOX3 Deletion in Mouse and Human Is Associated With Persistence of the Craniopharyngeal CanalSemantic proximity Read ↗

Evidence for increased SOX3 dosage as a risk factor for X-linked hypopituitarism and neural tube defects.Semantic proximity Read ↗

SOX3 is required during the formation of the hypothalamo-pituitary axis.Semantic proximity Read ↗

SOX2 heterozygous mutation causes multiple extra-ocular phenotypes in boysSemantic proximity Read ↗

Developmental disorders of the hypothalamus and pituitary gland associated with congenital hypopituitarism.Semantic proximity Read ↗

Array comparative genomic hybridisation analysis of boys with X linked hypopituitarism identifies a 3.9 Mb duplicated critical region at Xq27 containing <i>SOX3</i>Semantic proximity Read ↗

The 46, XX Ovotesticular Disorder of Sex Development With Xq27.1q27.2 Duplication Involving the SOX3 Gene: A Rare Case Report and Literature ReviewSemantic proximity Read ↗

Understanding the role of SOX9 in acquired diseases: lessons from developmentSemantic proximity Read ↗

Novel mutations in LHX3 are associated with hypopituitarism and sensorineural hearing loss.Semantic proximity Read ↗

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