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

Functional characteristics of a broad spectrum of TBX6 variants in Mayer-Rokitansky-Küster-Hauser syndrome

16 Sept 2022

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Congenital heart defects research
Share to Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
Share to Gynecological conditions and treatments

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 36112137
DOI: 10.1016/j.gim.2022.08.012

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Functional characteristics of a broad spectrum of TBX6 variants in Mayer-Rokitansky-Küster-Hauser syndromePMID 36112137Read ↗

Holt-Oram syndrome: clinical and molecular description of 78 patients with TBX5 variantsSemantic proximity Read ↗

Novel TBX5 mutations and molecular mechanism for Holt-Oram syndrome.Semantic proximity Read ↗

Causes of clinical diversity in human TBX5 mutations.Semantic proximity Read ↗

Variants in genes related to development of the urinary system are associated with Mayer–Rokitansky–Küster–Hauser syndromeSemantic proximity Read ↗

Clinical utility gene card for: Mayer-Rokitansky-Küster-Hauser syndrome.Semantic proximity Read ↗

Clinical heterogeneity among a three-generation Japanese family with D18N TREX1 mutation for Aicardi-Goutières syndrome / familial chilblain lupusSemantic proximity Read ↗

Human and mouse studies establish TBX6 in Mendelian CAKUT and as a potential driver of kidney defects associated with the 16p11.2 microdeletion syndromeSemantic proximity Read ↗

Definition of the alpha-KTx15 subfamilySemantic proximity Read ↗

The ever-expanding phenotypical spectrum of human TBX4 mutations: from toe to lungSemantic proximity Read ↗

Contiguous gene deletion of TBX5 and TBX3 leads to a varible phenotype with combined features of Holt-Oram and ulnar-mammary syndromes.Semantic proximity Read ↗

Heterozygous ZNHIT3 variants within the 17q12 recurrent deletion region are associated with Mayer-Rokitansky-Kuster Hauser (MRKH) syndromeSemantic proximity Read ↗

History, genetic, and recent advances on Krabbe diseaseSemantic proximity Read ↗

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