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

Designation of the TARP syndrome and linkage to Xp11.23-q13.3 without samples from affected patients.

American journal of medical genetics. Part A - 1 Jul 2003

Kurpinski Kyle T, Magyari Patricia A, Gorlin Robert J, Ng David, Biesecker Leslie G

Abstract excerpt

The Robin sequence is a well-known cause of cleft palate and can be sporadic or familial, isolated or syndromic. We present a four-generation family with a lethal disorder inherited in an X-linked recessive pattern that includes Talipes equinovarus, Atrial septal defect, Robin sequence, and Persi...

Read the complete abstract on PubMed

Topics

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

Share to Chromosomes, Human, X
Share to Clubfoot
Share to Family Health

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Linkage

Share to Genetic Markers

Share to Heart Septal Defects, Atrial

Share to Lod Score

Share to Syndrome

Source

Identifiers

PMID: 12794682
DOI: 10.1002/ajmg.a.10201

Genes

TARP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-12794682-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Designation of the TARP syndrome and linkage to Xp11.23-q13.3 without samples from affected patients.PMID 12794682Read ↗

A TARP Syndrome Phenotype Is Associated with a Novel Splicing Variant in RBM10.Semantic proximity Read ↗

Long-term survival in TARP syndrome and confirmation of RBM10 as the disease-causing gene.Semantic proximity Read ↗

Phenotypic spectrum of the RBM10-mediated intellectual disability and congenital malformation syndrome beyond classic TARP syndrome features.Semantic proximity Read ↗

Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism.Semantic proximity Read ↗

A syndromic form of Pierre Robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX.Semantic proximity Read ↗

Clinical diagnostic exome evaluation for an infant with a lethal disorder: genetic diagnosis of TARP syndrome and expansion of the phenotype in a patient with a newly reported RBM10 alteration.Semantic proximity Read ↗

Shared Segment Analysis and Next-Generation Sequencing Implicates the Retinoic Acid Signaling Pathway in Total Anomalous Pulmonary Venous Return (TAPVR).Semantic proximity Read ↗

Detailed mapping of a congenital heart disease gene in chromosome 3p25.Semantic proximity Read ↗

The Genetic Basis of the Pierre Robin SequenceSemantic proximity Read ↗

Massively parallel sequencing of exons on the X chromosome identifies RBM10 as the gene that causes a syndromic form of cleft palate.Semantic proximity Read ↗

Structural and numerical changes of chromosome X in patients with esophageal atresia.Semantic proximity Read ↗

Next Generation Sequencing and Cytogenetic Based Evaluation of Indian Pierre Robin Sequence Families Reveals CNV Regions of Modest Effect and a Novel LOXL3 Mutation.Semantic proximity Read ↗

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