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

Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency.

American journal of human genetics - 1 Dec 2002

Laumonnier Frédéric, Ronce Nathalie, Hamel Ben C J, Thomas Paul, Lespinasse James, Raynaud Martine, Paringaux Christine, Van Bokhoven Hans, Kalscheuer Vera, Fryns Jean-Pierre, Chelly Jamel, Moraine Claude, Briault Sylvain

Abstract excerpt

Physical mapping of the breakpoints of a pericentric inversion of the X chromosome (46,X,inv[X][p21q27]) in a female patient with mild mental retardation revealed localization of the Xp breakpoint in the IL1RAPL gene at Xp21.3 and the Xq breakpoint near the SOX3 gene (SRY [sex determining region...

Read the complete abstract on PubMed

Topics

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

Share to Chromosome Breakage
Share to Chromosome Inversion

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, X

Share to High Mobility Group Proteins

Share to Human Growth Hormone

Share to Peptides

Share to SOXB1 Transcription Factors

Share to X-Linked Intellectual Disability

Source

Open in PubMed Open full text

Identifiers

PMID: 12428212
DOI: 10.1086/344661
PMCID: PMC420004

Genes

SOX3
SRY

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-12428212-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency.PMID 12428212Read ↗

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

A novel mutation in SOX3 polyalanine tract: a case of Kabuki syndrome with combined pituitary hormone deficiency harboring double mutations in MLL2 and SOX3.Semantic proximity Read ↗

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

X-linked isolated growth hormone deficiency: expanding the phenotypic spectrum of SOX3 polyalanine tract expansions.Semantic proximity Read ↗

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

Study of six patients with complete F9 deletion characterized by cytogenetic microarray: role of the SOX3 gene in intellectual disability.Semantic proximity Read ↗

Increased Transactivation Associated with<i>SOX</i>3 Polyalanine Tract Deletion in a Patient with HypopituitarismSemantic 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 ↗

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

Mechanistic insight into the pathology of polyalanine expansion disorders revealed by a mouse model for X linked hypopituitarism.Semantic proximity Read ↗

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

Dissection of an inverted X(p21.3q27.1) chromosome associated with mental retardation.Semantic proximity Read ↗

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