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

Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia.

Cell - 30 May 1997

Mundlos S, Otto F, Mundlos C, Mulliken J B, Aylsworth A S, Albright S, Lindhout D, Cole W G, Henn W, Knoll J H, Owen M J, Mertelsmann R, Zabel B U, Olsen B R

Abstract excerpt

Cleidocranial dysplasia (CCD) is an autosomal-dominant condition characterized by hypoplasia/aplasia of clavicles, patent fontanelles, supernumerary teeth, short stature, and other changes in skeletal patterning and growth. In some families, the phenotype segregates with deletions resulting in he...

Read the complete abstract on PubMed

Topics

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

Share to Alleles
Share to Amino Acid Sequence
Share to Base Sequence

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Deletion

Share to Molecular Sequence Data

Share to Neoplasm Proteins

Share to Transcription Factors

Source

Identifiers

PMID: 9182765
DOI: 10.1016/s0092-8674(00)80260-3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-9182765-2026-09-02.2. 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

Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia.PMID 9182765Read ↗

Mutations Involving the Transcription Factor CBFA1 Cause Cleidocranial DysplasiaSemantic proximity Read ↗

Cleidocranial dysplasia: clinical and molecular geneticsSemantic proximity Read ↗

CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia.Semantic proximity Read ↗

A stop codon mutation in the CBFA 1 gene causes cleidocranial dysplasia.Semantic proximity Read ↗

Mutation analysis of core binding factor A1 in patients with cleidocranial dysplasia.Semantic proximity Read ↗

Heterozygous pathogenic variants involving CBFB cause a new skeletal disorder resembling cleidocranial dysplasiaSemantic proximity Read ↗

New mutations in the CBFA1 gene in two Mexican patients with cleidocranial dysplasia.Semantic proximity Read ↗

Cbfa1, a Candidate Gene for Cleidocranial Dysplasia Syndrome, Is Essential for Osteoblast Differentiation and Bone DevelopmentSemantic proximity Read ↗

A Cryptic CBFB Deletion-Inversion Expands the Mutational Spectrum of Variants Associated With Cleidocranial Dysplasia.Semantic proximity Read ↗

RUNX2 mutations in cleidocranial dysplasiaSemantic proximity Read ↗

Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia.Semantic proximity Read ↗

New Genetic Variants of RUNX2 in Mexican Families Causes Cleidocranial DysplasiaSemantic proximity Read ↗

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