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

Severe sex differentiation disorder in a boy with a 3.8 Mb 10q25.3-q26.12 microdeletion encompassing EMX2.

American journal of medical genetics. Part A - 1 Oct 2014

Piard Juliette, Mignot Brigitte, Arbez-Gindre Francine, Aubert Didier, Morel Yves, Roze Virginie, McElreavy Kenneth, Jonveaux Philippe, Valduga Mylène, Van Maldergem Lionel

Abstract excerpt

The molecular basis of male disorders of sex development (DSD) remains unexplained in a large number of cases. EMX2 has been proposed to play a role in the masculinization process for the past two decades, but formal evidence for this causal role is scarce. The aim of this study is to yield addit...

Read the complete abstract on PubMed

Topics

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

Share to Child, Preschool
Share to Chromosomes, Human, Pair 10

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Disorder of Sex Development, 46,XY

Share to Disorders of Sex Development

Share to Homeodomain Proteins

Share to Phenotype

Share to Sequence Deletion

Share to Transcription Factors

Source

Identifiers

PMID: 24975717
DOI: 10.1002/ajmg.a.36662

Genes

EMX2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24975717-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Severe sex differentiation disorder in a boy with a 3.8 Mb 10q25.3-q26.12 microdeletion encompassing EMX2.PMID 24975717Read ↗

New Genomic Technologies: An Aid for Diagnosis of Disorders of Sex DevelopmentSemantic proximity Read ↗

A report of gonadal mosaicism in DHX30-related neurodevelopmental disorder.Semantic proximity Read ↗

The smallest dislocated microduplication of Xq27.1 harboring SOX3 gene associated with XX male phenotype.Semantic proximity Read ↗

46,XY DSD and limb abnormalities in a female with a de novo LHX9 missense mutation.Semantic proximity Read ↗

Interstitial 10p11.23-p12.1 microdeletions associated with developmental delay, craniofacial abnormalities, and cryptorchidism.Semantic proximity Read ↗

Deletions of 9p and the quest for a conserved mechanism of sex determination.Semantic proximity Read ↗

Duplication of the SOX3 gene in an sry-negative 46,XX male with associated congenital anomalies of kidneys and the urinary tract: Case report and review of the literatureSemantic proximity Read ↗

Two cases with interstitial deletions of chromosome 2 and sex reversal in one.Semantic proximity Read ↗

De novo rare EMX2 variants lead to idiopathic hypogonadotropic hypogonadism.Semantic proximity Read ↗

A 3.7 Mb deletion encompassing ZEB2 causes a novel polled and multisystemic syndrome in the progeny of a somatic mosaic bull.Semantic proximity Read ↗

MAP3K1-related gonadal dysgenesis: Six new cases and review of the literature.Semantic proximity Read ↗

Genitourinary Defects Associated with Genomic Deletions in 2p15 Encompassing OTX1Semantic proximity Read ↗

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