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

Parietal aplasia and hypophosphatasia in a child harboring a novel mutation in RUNX2 and a likely pathogenic variant in TNSALP.

Bone - 1 May 2021

Papadopoulou Anna, Bountouvi Evangelia, Sideri Vassiliki, Moutsatsou Paraskevi, Skarakis Nikitas Spyridon, Doulgeraki Artemis, Karachaliou Fotini Eleni

Abstract excerpt

Cleidocranial dysplasia is a dominantly inherited skeletal dysplasia resulting from inherited or spontaneous mutations of Runt-related transcription factor 2 gene (RUNX2). It represents a clinical continuum typically characterized by wide calvarial sutures, clavicular hypoplasia and dental abnormalities. CDD has been rarely associated with skeletal and biochemical features that mimic hypophosphatasia. We report...

Read the complete abstract on PubMed

Topics

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

Share to Child, Preschool
Share to Cleidocranial Dysplasia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Core Binding Factor Alpha 1 Subunit

Share to Hypophosphatasia

Share to Mutation

Share to Phenotype

Source

Identifiers

PMID: 33647526
DOI: 10.1016/j.bone.2021.115904

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Parietal aplasia and hypophosphatasia in a child harboring a novel mutation in RUNX2 and a likely pathogenic variant in TNSALP.PMID 33647526Read ↗

Classical cleidocranial dysplasia in an adult, due to a novel frameshift pathogenic variant in RUNX2.Semantic proximity Read ↗

Cleidocranial dysplasia with decreased bone density and biochemical findings of hypophosphatasia.Semantic proximity Read ↗

The impact of RUNX2 gene variants on cleidocranial dysplasia phenotype: a systematic review.Semantic proximity Read ↗

Identification and Functional Characterization of a Novel De Novo RUNX2 Frameshift Mutation Associated With Cleidocranial DysplasiaSemantic proximity Read ↗

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

Cleidocranial dysplasia and novel RUNX2 variants: dental, craniofacial, and osseous manifestations.Semantic proximity Read ↗

Skeletal and molecular findings in 51 Cleidocranial dysplasia patients from Turkey.Semantic proximity Read ↗

Hypophosphatasia in children: From low alkaline phosphatase activity to diagnosis, genetic testing, and treatment options. A narrative review.Semantic proximity Read ↗

Identification of a Novel Splice Site Mutation in RUNX2 Gene in a Family with Rare Autosomal Dominant Cleidocranial Dysplasia.Semantic proximity Read ↗

Cleidocranial dysplasia with severe parietal bone dysplasia: C-terminal RUNX2 mutations.Semantic proximity Read ↗

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

Cleidocranial dysplasia with severe parietal bone dysplasia: a new (p.Val124Serfs) RUNX2 mutation.Semantic proximity Read ↗

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