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

Homozygous Null TBX4 Mutations Lead to Posterior Amelia with Pelvic and Pulmonary Hypoplasia

21 Nov 2019

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 Cardiovascular Conditions and Treatments
Share to Congenital heart defects research
Share to Congenital Heart Disease Studies

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 31761294
DOI: 10.1016/j.ajhg.2019.10.013

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Homozygous Null TBX4 Mutations Lead to Posterior Amelia with Pelvic and Pulmonary HypoplasiaPMID 31761294Read ↗

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

Molecular Function and Contribution of TBX4 in Development and Disease.Semantic proximity Read ↗

Contiguous hemizygous deletion of TBX5, TBX3, and RBM19 resulting in a combined phenotype of Holt-Oram and ulnar-mammary syndromes.Semantic proximity Read ↗

Teeth anomalies and genetics, including genetic syndromesSemantic proximity Read ↗

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

Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactylySemantic proximity Read ↗

Gene mutations and chromosomal abnormalities in syndromes with tooth agenesis.Semantic proximity Read ↗

Tetra-amelia and lung hypo/aplasia syndrome: new case report and review.Semantic 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 ↗

TBX6 as a cause of a combined skeletal-kidney dysplasia syndrome.Semantic proximity Read ↗

The roles and regulation of TBX3 in development and diseaseSemantic proximity Read ↗

Rare and Common Variants Conferring Risk of Tooth Agenesis.Semantic proximity Read ↗

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