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

A novel BRF1 mutation in two middle-aged siblings with cerebellofaciodental syndrome.

Chinese medical journal - 5 Oct 2022

Zhao Xin, Lan Yan, Miao Jinfeng, Li Guo, Sun Wenzhe, Qiu Xiuli, Zhu Suiqiang, Zhu Zhou

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 Mutation
Share to Siblings
Share to TATA-Binding Protein Associated Factors

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Source

Open in PubMed Open full text

Identifiers

PMID: 34935685
DOI: 10.1097/CM9.0000000000001901
PMCID: PMC9771189

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 19 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel BRF1 mutation in two middle-aged siblings with cerebellofaciodental syndrome.PMID 34935685Read ↗

Expanding the phenotype of cerebellar-facial-dental syndrome: Two siblings with a novel variant in BRF1.Semantic proximity Read ↗

Cerebellofaciodental syndrome in an adult patient: Expanding the phenotypic and natural history characteristics.Semantic proximity Read ↗

Identification of novel variants in BRF1 gene from patient with developmental delay, hearing abnormality, and nervous system anomalies.Semantic proximity Read ↗

Expanding the mutational landscape and clinical phenotype of the YIF1B related brain disorder.Semantic proximity Read ↗

Additional EFNB1 mutations in craniofrontonasal syndrome.Semantic proximity Read ↗

A novel PTF1A mutation in a patient with severe pancreatic and cerebellar involvement.Semantic proximity Read ↗

Oculofaciocardiodental syndrome caused by a novel BCOR variantSemantic proximity Read ↗

A665G mutation in PRF1 in a Turkish infant with familial hemophagocytic lymphohistiocytosis.Semantic proximity Read ↗

Weill-Marchesani-like syndrome caused by an FBN1 mutation with low-penetrance.Semantic proximity Read ↗

The Phenotypic and Genotypic Spectrum of BRPF1-Related Disorder: 29 New Patients and Literature Review.Semantic proximity Read ↗

Additional clinical and molecular analyses of TFAP2A in patients with the Branchio-Oculo-Facial syndrome: Previously reported patient.Semantic proximity Read ↗

Kaufman oculocerebrofacial syndrome in sisters with novel compound heterozygous mutation in UBE3B.Semantic proximity Read ↗

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