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 complex microdeletion 17q12 phenotype in a patient with recurrent de novo membranous nephropathy.

BMC nephrology - 14 May 2012

Hinkes Bernward, Hilgers Karl F, Bolz Hanno J, Goppelt-Struebe Margarete, Amann Kerstin, Nagl Sandra, Bergmann Carsten, Rascher Wolfgang, Eckardt Kai-Uwe, Jacobi Johannes

Abstract excerpt

BACKGROUND: Microdeletions on chromosome 17q12 cause of diverse spectrum of disorders and have only recently been identified as a rare cause of Mayer-Rokitansky-Kuester-Hauser-Syndrome (MRKH), which is characterized by uterus aplasia ± partial/complete vaginal aplasia in females with a regular karyotype. For the first time we report about a patient with a 17q12 microdeletion who is affected by MRKH in combination...

Read the complete abstract on PubMed

Topics

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

Share to 46, XX Disorders of Sex Development
Share to Glomerulonephritis, Membranous

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mullerian Ducts

Share to Smith-Magenis Syndrome

Share to Somites

Share to Uterus

Share to Vagina

Source

Open in PubMed Open full text

Identifiers

PMID: 22583611
DOI: 10.1186/1471-2369-13-27
PMCID: PMC3412739

Genes

LHX1

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 complex microdeletion 17q12 phenotype in a patient with recurrent de novo membranous nephropathy.PMID 22583611Read ↗

Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reportsSemantic proximity Read ↗

Characterization of the prenatal renal phenotype associated with 17q12, HNF1B, microdeletions.Semantic proximity Read ↗

Potter Deformation Sequence Caused by 17q12 Deletion: A Lethal Constellation.Semantic proximity Read ↗

[Prenatal diagnosis of 17q12 microdeletion syndrome in fetal renal abnormalities].Semantic proximity Read ↗

Genetics of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: advancements and implicationsSemantic proximity Read ↗

Improving renal phenotype and evolving extra-renal features of 17q12 deletion encompassing the HNF1B geneSemantic proximity Read ↗

Case Report: A Multisystem Mystery: Unraveling HNF1β-Associated Glomerulocystic Disease in a 30-year-old FemaleSemantic proximity Read ↗

Prenatal diagnosis of 17q12 deletion syndrome: a retrospective case seriesSemantic proximity Read ↗

Two cases of fetal hyperechogenic kidneys who had HNF1-β gene variation.Semantic proximity Read ↗

Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy.Semantic proximity Read ↗

Prenatal Diagnosis and Prognosis of Fetal Hyperechogenic Kidney: A Study of 80 CasesSemantic proximity Read ↗

Renal and extra-renal phenotypes in a fetus with a de novo pathogenic variant in the HNF1B gene.Semantic proximity Read ↗

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