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

3-M syndrome: evolution of the phenotype over time.

Italian journal of pediatrics - 23 Dec 2025

Bacchi Isabelle, Vandelli Sara, Coccia Emanuele, Giannini Lucrezia, Zuntini Roberta, Teneggi Rachele, Caraffi Stefano Giuseppe, Baroni Maria Chiara, Contrò Gianluca, Peruzzi Adelaide, Ambrosetti Irene, Pollazzon Marzia, Sartori Chiara, Lausch Ekkehart, Matysiak Uta, Gambini Lucia, Gargano Giancarlo, Orlando Valeria, Novelli Antonio, Iughetti Lorenzo, Unger Sheila, Superti-Furga Andrea, Garavelli Livia

Abstract excerpt

BACKGROUND: 3-M syndrome is an autosomal recessive disease characterized by short stature, facial dysmorphism and skeletal anomalies. To date, biallelic pathogenic CUL7 variants are responsible for the majority of cases, but biallelic deleterious changes in OBSL1 and CCDC8 can also establish the diagnosis. CASES PRESENTATION: We report two unrelated newborns showing clinical signs compatible with 3-M syndrome and...

Read the complete abstract on PubMed

Topics

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

Share to Abnormalities, Multiple

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Craniofacial Abnormalities

Share to Cullin Proteins

Share to Cytoskeletal Proteins

Share to Dwarfism

Share to Muscle Hypotonia

Source

Open in PubMed Open full text

Identifiers

PMID: 41437277
DOI: 10.1186/s13052-025-02172-8
PMCID: PMC12838503

Genes

CUL7
CCDC8
OBSL1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

3-M syndrome: evolution of the phenotype over time.PMID 41437277Read ↗

An Update on 3M Syndrome: Review of Clinical and Molecular Aspects and Report of Additional Families.Semantic proximity Read ↗

Natural history of facial and skeletal features from neonatal period to adulthood in a 3M syndrome cohort with biallelic CUL7 or OBSL1 variants.Semantic proximity Read ↗

Prenatal and early diagnosis of Chinese 3-M syndrome patients with novel pathogenic variants.Semantic proximity Read ↗

A rare cause of syndromic short stature: 3M syndrome in three families.Semantic proximity Read ↗

Clinical and molecular spectrum along with genotype-phenotype correlation of 25 patients diagnosed with 3 M syndrome: a study from Turkey.Semantic proximity Read ↗

Changes in facial appearance from neonate to adult in 3-M syndrome patient with novel CUL7 gene mutations.Semantic proximity Read ↗

Clinical and Molecular Spectrum Along With Genotype-Phenotype Correlation of 25 Patients Diagnosed With 3M Syndrome: A Study from TurkeySemantic proximity Read ↗

Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3.Semantic proximity Read ↗

Exploring the spectrum of 3-M syndrome, a primordial short stature disorder of disrupted ubiquitination.Semantic proximity Read ↗

3M syndrome: A Tunisian seven-cases series.Semantic proximity Read ↗

3-M syndrome - a primordial short stature disorder with novel CUL7 mutation in two Indian patients.Semantic proximity Read ↗

Advancing the Clinical and Molecular Understanding of Cornelia De Lange Syndrome: A Multidisciplinary Pediatrics Case Series and Review of LiteratureSemantic proximity Read ↗

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