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

Identification of a de novo PUF60 variant associated with craniofacial microsomia.

American journal of medical genetics. Part A - 1 Sept 2024

Ogawa Takuya, Xue Jingyi, Guo Long, Inoue-Arai Maristela Sayuri, Vendramini-Pittoli Siulan, Zechi-Ceide Roseli Maria, Candido-Souza Rosana Maria, Tonello Cristiano, Brandão Michele Madeira, Ozawa Terumi Okada, Peixoto Adriano Porto, Ruiz Daniela Maria Cury Ferreira, Nakashima Tomoki, Ikegawa Shiro, Moriyama Keiji, Kokitsu-Nakata Nancy Mizue

Abstract excerpt

Craniofacial microsomia (CFM), also known as the oculo-auriculo-vertebral spectrum, is a congenital disorder characterized by hypoplasia of the mandible and external ear due to tissue malformations originating from the first and second branchial arches. However, distinguishing it from other syndromes of branchial arch abnormalities is difficult, and causal variants remain unidentified in many cases. In this...

Read the complete abstract on PubMed

Topics

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

Share to Exome Sequencing
Share to Codon, Nonsense

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Goldenhar Syndrome

Share to Infant

Share to Mandible

Share to Pedigree

Share to Repressor Proteins

Share to RNA Splicing Factors

Source

Identifiers

PMID: 38647383
DOI: 10.1002/ajmg.a.63631

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of a de novo PUF60 variant associated with craniofacial microsomia.PMID 38647383Read ↗

The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome.Semantic proximity Read ↗

Identification of a novel de novo PUF60 variant causing Verheij syndrome in a fetus.Semantic proximity Read ↗

Novel PUF60 variant suggesting an interaction between Verheij and Cornelia de Lange syndrome: phenotype description and review of the literature.Semantic proximity Read ↗

Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature.Semantic proximity Read ↗

PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features.Semantic proximity Read ↗

Novel Genetic and Phenotypic Expansion in Ameliorated PUF60-Related Disorders.Semantic proximity Read ↗

[Clinical and genetic analysis of Verheij syndrome caused by PUF60 de novo mutation in a Chinese boy and literature review].Semantic proximity Read ↗

A de novo proximal 3q29 chromosome microduplication in a patient with oculo auriculo vertebral spectrum.Semantic proximity Read ↗

First report of tethered cord syndrome in a patient with Verheij syndrome.Semantic proximity Read ↗

Clinical and zebrafish studies of truncating SF3B2-variants in craniofacial microsomia.Semantic proximity Read ↗

An Uncommon Case of Hypophosphataemia-Non-Lethal Raine Syndrome With Novel FAM20C Variant: Expanding the Phenotypic Spectrum.Semantic proximity Read ↗

Novel risk factors for craniofacial microsomia and assessment of their utility in clinic diagnosis.Semantic proximity Read ↗

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