Diverse SOX3 genetic variants and their associated phenotypic spectrum in human disease.
Overview
- Department of Biomedical Sciences, Humanitas University, via Rita Levi Montalcini 4, 20072 Pieve Emanuele, Milan, Italy
- Endocrinology, Diabetology and Medical Andrology Unit, IRCCS Humanitas Research Hospital, via Manzoni 56, 20089 Rozzano, Milan, Italy
Abstract
SOX3 is a single-exon gene located on the X chromosome (Xq27.1), encoding a transcription factor critical for early central nervous system and pituitary development, as well as gonadal function. A growing body of literature reports a diverse array of phenotypes associated with different classes of SOX3 variants, including single-nucleotide variants, indels, polyalanine tract changes, copy number variants, and structural rearrangements. These variants have been implicated in conditions ranging from pan-hypopituitarism or isolated growth hormone deficiency to neural tube defects, disorders/
Reproduced under the paper's license (CC BY), from the paper cited above.
Code
The paper links to its data, not to its authors' code: see the Data section.
Tracing map
A tracing map links a paper to the code its authors published: this paper has none, so it has no map.
Data
Datasets cited
- uniprot.org/
uniprotkb/ — at UniProt; found in the text, “Essential points”p41225
Versions
The history of this record: each version stored by the harvester or made by a correction of its authors or of the maintainers of its code, and what changed in its facts. The texts of the paper (its abstract, its availability statements) are not part of it; versions that changed only those are not listed.
Version 1, 27 September 2026: the first record
Recorded: type, language, journal, volume, issue, pages, dates, 4 authors, 5 keywords, 5 MeSH terms, 1 funder, 161 references.
Cite
This paper
De Dominicis, C., Birtolo, M. F., Lania, A. G., & Trivellin, G. (2026). Diverse SOX3 genetic variants and their associated phenotypic spectrum in human disease. Endocrine reviews, 47(4), 512-534. https://
BibTeX
@article{dedominicis2026
author = {De Dominicis, Chiara and Birtolo, Maria Francesca and Lania, Andrea G and Trivellin, Giampaolo},
title = {{Diverse SOX3 genetic variants and their associated phenotypic spectrum in human disease}},
journal = {Endocrine reviews},
year = {2026},
month = jul,
volume = {47},
number = {4},
pages = {512--534},
publisher = {The Endocrine Society},
issn = {0163-769X},
doi = {10.1210/
url = {https://
pmid = {42029673},
pmcid = {PMC13368379}
}
RIS
TY - JOUR
AU - De Dominicis, Chiara
AU - Birtolo, Maria Francesca
AU - Lania, Andrea G
AU - Trivellin, Giampaolo
TI - Diverse SOX3 genetic variants and their associated phenotypic spectrum in human disease
T2 - Endocrine reviews
J2 - Endocr Rev
PY - 2026
DA - 2026/
VL - 47
IS - 4
SP - 512
EP - 534
SN - 0163-769X
PB - The Endocrine Society
DO - 10.1210/
UR - https://
LA - en
ER -
CSL-JSON
{
"id": "10.1210/
"type": "article-journal",
"title": "Diverse SOX3 genetic variants and their associated phenotypic spectrum in human disease",
"container-title": "Endocrine reviews",
"author": [
{
"family": "De Dominicis",
"given": "Chiara"
},
{
"family": "Birtolo",
"given": "Maria Francesca"
},
{
"family": "Lania",
"given": "Andrea G"
},
{
"family": "Trivellin",
"given": "Giampaolo"
}
],
"container-title-short":
"volume": "47",
"issue": "4",
"page": "512-534",
"DOI": "10.1210/
"PMID": "42029673",
"PMCID": "PMC13368379",
"ISSN": "0163-769X",
"publisher": "The Endocrine Society",
"URL": "https://
"language": "en",
"issued": {
"date-parts": [
[
2026,
7,
1
]
]
}
}
Similar papers
The papers with a page that share the most with this one: the tools found in their code, their categories, datasets, cited references and authors, the rarest counting most.
- [1] doi:10.1155/humu/4225263
- The Charcot-Marie-Tooth Neuropathy (CMTX3) Complex Structural Variation Causes Differential SOX3 Spatiotemporal Expression.Journal: Human mutationIn common: genetics / omics, other condition, cellular / molecular, 32 references
- [2] doi:10.1038/s41467-026-73770-1 [code]
- Non-coding structural variants disrupt FOXG1 transcriptional regulation in early neurodevelopment.Journal: Nature communicationsIn common: other condition, 2 references
- [3] doi:10.1186/s13059-026-04126-7
- Srr2-dependent SOX2 levels govern the chromatin and transcriptional landscape of adult neural stem cell fate decisions in mouse.Journal: Genome biologyIn common: genetics / omics, 2 references
- [4] doi:10.3390/genes17080849
- Deciphering the Role of LNX2 as a Potential Contributor to Neurodevelopmental Disorders.Journal: GenesIn common: genetics / omics, other condition, 1 reference
- [5] doi:10.1111/bpa.70129
- Brain metastasis-associated fibroblasts shape the tumour microenvironment to enhance cancer cell invasion.Journal: Brain pathology (Zurich, Switzerland)In common: genetics / omics, other condition, cellular / molecular, 1 reference
- [6] doi:10.1016/j.mcpro.2026.101604 [code]
- Optimizing NGN2 Dosage Enhances the Neuronal Enrichment of iPSC-Derived Neuronal Cultures.Journal: Molecular & cellular proteomics : MCPIn common: genetics / omics, cellular / molecular, 1 reference
- [7] doi:10.1093/bib/bbag404 [code]
- Navigating cell maps by deep learning integration of single-cell and spatially resolved transcriptomics.Journal: Briefings in bioinformaticsIn common: genetics / omics, other condition, cellular / molecular, 1 reference
- [8] doi:10.1186/s13073-026-01699-7
- De novo variants in NPTN cause a neurodevelopmental disorder with autism and neuroplastin-PMCA hypofunction.Journal: Genome medicineIn common: genetics / omics, other condition, 1 reference
- [9] doi:10.1093/narmme/ugag028 [code]
- MCVAE-based multi-omic anomaly detection in Fragile X Syndrome.Journal: NAR molecular medicineIn common: genetics / omics, other condition, cellular / molecular, 1 reference
- [10] doi:10.1002/epi4.70269 [code]
- Real-world-data for phenotypes and genotypes of rare monogenic genetic epilepsies and genes of uncertain significance for epilepsy.Journal: Epilepsia openIn common: genetics / omics, cellular / molecular, 1 reference
Contribute
The authors of this paper can claim it, correct its record and validate its tracing map, and the maintainers of its code (its owner, or a public member of its organization) correct what it says of their repository; anyone signed in can ask for its removal. Every request goes to OSCR's own machine, which answers it; your account page follows them.
Sign in with ORCID to claim this paper as one of its authors, correct its record or validate its tracing map: when the paper's metadata lists your ORCID iD, you are recognized at once. Maintainers of its code: sign in with GitHub, then claim the repository on your account page.
Claim this paper
Correct its record
Say what each link of this record is, remove the ones that are not the paper's, add the ones that are missing. The correction becomes a new version of the record, in its Versions section.
Request its removal
To ask OSCR to remove this record, the copies of its authors' scripts or its tracing map, use the removal request page: signed in, you say who you are, what to remove and why, then review and confirm the request. Published rules decide every request (how).
Discussion, reproductions, activity
Discussion: questions and error reports about this paper and its code, from signed-in readers and its authors. It opens with sign-in.
Reproductions: reports from readers who ran the authors' code: what they reproduced, with which environment, commit and data. It opens with sign-in.
Activity: what happens around this paper: new versions of its record, its map's validation, discussions and reproductions. It opens with sign-in.