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 SOX3 duplication and lumbosacral spina bifida in three generations.

American journal of medical genetics. Part A - 1 May 2022

Butler Kameryn M, Fee Timothy, DuPont Barbara R, Dean Jane H, Stevenson Roger E, Lyons Michael J

Abstract excerpt

Chromosomal aneuploidies, microduplications and microdeletions are the most common confirmed genetic causes of spina bifida. Microduplications of Xq27 containing the SOX3 gene have been reported in 11 cases, confirming the existence of an X-chromosomal locus for spina bifida. A three generation kindred reported here with a SOX3 duplication has been identified in one of 17 kindreds with recurrences in the 29 years...

Read the complete abstract on PubMed

Topics

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

Share to Encephalocele
Share to Mutation
Share to Neural Tube Defects

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Recurrence

Share to SOXB1 Transcription Factors

Share to Spinal Dysraphism

Source

Identifiers

PMID: 35098650
DOI: 10.1002/ajmg.a.62668

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 SOX3 duplication and lumbosacral spina bifida in three generations.PMID 35098650Read ↗

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

Exon sequencing of PAX3 and T (brachyury) in cases with spina bifida.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 ↗

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 ↗

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

Recurrent SOX9 deletion campomelic dysplasia due to somatic mosaicism in the father.Semantic proximity Read ↗

Biallelic deletions of the Waardenburg II syndrome gene, SOX10, cause a recognizable arthrogryposis syndrome.Semantic proximity Read ↗

A family with X-linked anophthalmia: exclusion of SOX3 as a candidate gene.Semantic proximity Read ↗

Familial recurrence of SOX2 anophthalmia syndrome: phenotypically normal mother with two affected daughters.Semantic proximity Read ↗

Mutations in SOX2 cause anophthalmia.Semantic proximity Read ↗

Genetic study of SOX9 in a case of campomelic dysplasia.Semantic proximity Read ↗

Acampomelic campomelic dysplasia with de novo 5q;17q reciprocal translocation and severe phenotype.Semantic proximity Read ↗

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