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

An Intron 9 CYP19 Gene Variant (IVS9+5G>A), Present in an Aromatase-Deficient Girl, Affects Normal Splicing and Is Also Present in Normal Human Steroidogenic Tissues.

Hormone research in paediatrics - 1 Jan 2015

Saraco Nora, Nesi-Franca Suzana, Sainz Romina, Marino Roxana, Marques-Pereira Rosana, La Pastina Julia, Perez Garrido Natalia, Sandrini Romolo, Rivarola Marco Aurelio, de Lacerda Luiz, Belgorosky Alicia

Abstract excerpt

BACKGROUND/AIMS: Splicing CYP19 gene variants causing aromatase deficiency in 46,XX disorder of sexual development (DSD) patients have been reported in a few cases. A misbalance between normal and aberrant splicing variants was proposed to explain spontaneous pubertal breast development but an incomplete sex maturation progress. The aim of this study was to functionally characterize a novel CYP19A1 intronic...

Read the complete abstract on PubMed

Topics

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

Share to Adrenal Glands
Share to Amenorrhea

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Aromatase

Share to Chlorocebus aethiops

Share to COS Cells

Share to Placenta

Share to Protein Splicing

Share to Testis

Source

Identifiers

PMID: 26279340
DOI: 10.1159/000437142

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.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

An Intron 9 CYP19 Gene Variant (IVS9+5G>A), Present in an Aromatase-Deficient Girl, Affects Normal Splicing and Is Also Present in Normal Human Steroidogenic Tissues.PMID 26279340Read ↗

Novel CYP19A1 Mutations Extend the Genotype-Phenotype Correlation and Reveal the Impact on Ovarian FunctionSemantic proximity Read ↗

Molecular basis of aromatase deficiency in an adult female with sexual infantilism and polycystic ovaries.Semantic proximity Read ↗

Variable phenotypes associated with aromatase (CYP19) insufficiency in humans.Semantic proximity Read ↗

A Novel Null Mutation in P450 Aromatase Gene (CYP19A1) Associated with Development of Hypoplastic Ovaries in HumansSemantic proximity Read ↗

Aromatase Deficiency due to a Homozygous CYP19A1 Mutation in a 46,XX Egyptian Patient with Ambiguous Genitalia.Semantic proximity Read ↗

The novel founder homozygous V225M mutation in the HSD17B3 gene causes aberrant splicing and XY-DSD.Semantic proximity Read ↗

A case of Aromatase deficiency due to a novel CYP19A1 mutationSemantic proximity Read ↗

Molecular Basis of CYP19A1 Deficiency in a 46, XX Patient with R550W Mutation in <em>POR</em>: Expanding the PORD PhenotypeSemantic proximity Read ↗

The cytochrome P450 aromatase lacking exon 5 is associated with a phenotype of nonclassic aromatase deficiency and is also present in normal human steroidogenic tissues.Semantic proximity Read ↗

Genetic and clinical spectrum of aromatase deficiency in infancy, childhood and adolescence.Semantic proximity Read ↗

Molecular Basis of CYP19A1 Deficiency in a 46,XX Patient With R550W Mutation in POR: Expanding the PORD Phenotype.Semantic proximity Read ↗

Testicular dysgenesis/regression without campomelic dysplasia in patients carrying missense mutations and upstream deletion of SOX 9Semantic proximity Read ↗

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