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

Pierpont syndrome due to mutation c.1337A>G in TBL1XR1 gene.

Clinical dysmorphology - 1 Jul 2022

Tesarova Marketa, Baxova Alice, Hansikova Hana, Lambert Lukas, Vondrackova Alzbeta, Leiska Alena, Zeman Jiri

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 Child
Share to Developmental Disabilities
Share to Facies
Share to Lipomatosis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Receptors, Cytoplasmic and Nuclear

Share to Repressor Proteins

Source

Identifiers

PMID: 35165208
DOI: 10.1097/MCD.0000000000000416

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Pierpont syndrome due to mutation c.1337A>G in TBL1XR1 gene.PMID 35165208Read ↗

A novel de novo pathogenic variant in TBL1XR1 as a new proposed cause of Pierpont syndrome.Semantic proximity Read ↗

Pierpont syndrome associated with the p.Tyr446Cys missense mutation in TBL1XR1.Semantic proximity Read ↗

TBL1XR1 associated intellectual disability, a new missense variant with dysmorphic features plus autism: Expanding the phenotypic spectrum.Semantic proximity Read ↗

A Novel Partial Deletion of the TBL1XR1 Gene Detected Using SNP Array in a Patient with Motor Delay, Growth Failure, and Klinefelter Syndrome.Semantic proximity Read ↗

An animal model for Pierpont syndrome: a mouse bearing the Tbl1xr1Y446C/Y446C mutation.Semantic proximity Read ↗

Novel Arthrogryposis Multiplex Congenita Presentation in a Newborn With Pierpont Syndrome.Semantic proximity Read ↗

Genetic predisposition to porto-sinusoidal vascular disorderSemantic proximity Read ↗

Novel mutations of TCIRG1 cause a malignant and mild phenotype of autosomal recessive osteopetrosis (ARO) in four Chinese families.Semantic proximity Read ↗

Two cases of TBL1XR1 heterozygous variants in children: a new splicing site variant identification and functional analysis through molecular docking and molecular dynamics simulation.Semantic proximity Read ↗

Pierpont syndrome: a collaborative study.Semantic proximity Read ↗

Gene symbol: LMX1B. Disease: Nail-patella syndrome.Semantic proximity Read ↗

PRF1 gene mutation in a Saudi patient with haemophagocytic lymphohistiocytosis.Semantic proximity Read ↗

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