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

VACTERL phenotype with mosaic trisomy 5 and uniparental disomy 5.

American journal of medical genetics. Part A - 1 Feb 2018

Hwang Samuel, Rudd Mary Katharine, Finch Lisa, Peterson Suzanne E, Kapur Raj P

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 Aborted Fetus
Share to Anal Canal
Share to Esophagus
Share to Limb Deformities, Congenital

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Trachea

Share to Trisomy

Share to Uniparental Disomy

Source

Identifiers

PMID: 29250894
DOI: 10.1002/ajmg.a.38579

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

VACTERL phenotype with mosaic trisomy 5 and uniparental disomy 5.PMID 29250894Read ↗

Phenotypic diversity of patients diagnosed with VACTERL association.Semantic proximity Read ↗

Evidence for inheritance in patients with VACTERL associationSemantic proximity Read ↗

Clinical geneticists' views of VACTERL/VATER associationSemantic proximity Read ↗

A prenatal diagnosis of mosaic trisomy 5 reveals a postnatal complete uniparental disomy of chromosome 5 with multiple congenital anomaliesSemantic proximity Read ↗

The genetic landscape and clinical implications of vertebral anomalies in VACTERL association.Semantic proximity Read ↗

PCSK5 mutation in a patient with the VACTERL association.Semantic proximity Read ↗

Sporadic neonatal Fanconi's anemia with VACTERL association.Semantic proximity Read ↗

Considering the Embryopathogenesis of VACTERL AssociationSemantic proximity Read ↗

First clinical report of an infant with microcephaly and CASC5 mutations.Semantic proximity Read ↗

[VACTERL-H association with tibial agenesis. Expansion of the clinical phenotype?].Semantic proximity Read ↗

De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL associationSemantic proximity Read ↗

5p deletions: Current knowledge and future directions.Semantic proximity Read ↗

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