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

The third family with TAF6-related phenotype: Alazami-Yuan syndrome.

Clinical genetics - 1 May 2020

Tuc Ecenur, Bengur Fuat Baris, Aykut Aslan, Sahin Ozlem, Alanay Yasemin

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 Adolescent
Share to De Lange Syndrome
Share to Exome Sequencing
Share to Genetic Predisposition to Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Intellectual Disability

Share to Pedigree

Share to Phenotype

Share to TATA-Binding Protein Associated Factors

Source

Identifiers

PMID: 32030742
DOI: 10.1111/cge.13711

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The third family with TAF6-related phenotype: Alazami-Yuan syndrome.PMID 32030742Read ↗

EEC syndrome-like phenotype in a patient with an IRF6 mutation.Semantic proximity Read ↗

Phenotype of two Polish patients with Schaaf-Yang syndrome confirmed by identifying mutation in MAGEL2 gene.Semantic proximity Read ↗

Molecular genetics of Tay-Sachs disease in Japan.Semantic proximity Read ↗

Tietz syndrome: unique phenotype specific to mutations of MITF nuclear localization signal.Semantic proximity Read ↗

TAF1 as the Most Plausible Disease Gene for XDP/DYT3Semantic proximity Read ↗

Functional analysis of large MAF transcription factors and elucidation of their relationships with human diseases.Semantic proximity Read ↗

A novel GATA4 mutation completely segregated with atrial septal defect in a large Japanese family.Semantic proximity Read ↗

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

Clinical features and underlying mechanisms of KAT6B disease in a Chinese boy.Semantic proximity Read ↗

Letter to the Editor regarding "New cases of recently described Thauvin-Robinet-Faivre syndrome with a novel homozygous FIBP gene variant" by Kılıç and Koşukçu, "An investigation of the etiology and follow-up findings in 35 children with overgrowth syndromes, including biallelic SUZ12 variant" by Yüksel Ülker et al. and "Expanding the phenotype and genotype in Thauvin-Robinet-Faivre syndrome: A new patient with a novel variant and additional clinical findings" by Duzenli et al.Semantic proximity Read ↗

Novel clinical and molecular findings in Chinese families with Hailey-Hailey disease.Semantic proximity Read ↗

A new 3p interstitial deletion including the entire MITF gene causes a variation of Tietz/Waardenburg type IIA syndromes.Semantic proximity Read ↗

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