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 case of enamel renal syndrome from a novel genetic mutation, multidisciplinary management and long-term prognosis.

Upsala journal of medical sciences - 1 Jan 2024

Erkapers Maria, Frykholm Carina, Furuland Hans, Segerström Susanna, Thor Andreas

Abstract excerpt

Background: The heterogeneous features of enamel renal syndrome (ERS) make diagnosis and treatment challenging. The main symptoms are disturbed amelogenesis and nephrocalcinosis. Bi-allelic likely pathogenic (LP) or pathogenic (P) variants in FAM20A have been associated with the syndrome since 2012. Affected patients often receive extensive dental treatment because of deviant orofacial morphology. However,...

Topics

Join the communities discussing this publication.

Mutation
Amelogenesis Imperfecta
Dental Enamel Proteins
Nephrocalcinosis
Prognosis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Open in PubMed Open full text

Identifiers

PMID: 39376587
DOI: 10.48101/ujms.v129.10228
PMCID: PMC11457907

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A case of enamel renal syndrome from a novel genetic mutation, multidisciplinary management and long-term prognosis.PMID 39376587Read ↗

Enamel Renal Syndrome: A Scoping Review ProtocolSemantic proximity Read ↗

Enamel renal syndrome due to FAM20A mutations: challenging kidney management in view of nephrocalcinosis, hypophosphatemia and hypocalciuria.Semantic proximity Read ↗

Pathognomonic oral profile of Enamel Renal Syndrome (ERS) caused by recessive FAM20A mutations.Semantic proximity Read ↗

Enamel renal syndrome: A novel homozygous FAM20A founder mutation in 5 new Brazilian familiesSemantic proximity Read ↗

Enamel-Renal-Gingival syndrome, hypodontia, and a novel FAM20A mutation.Semantic proximity Read ↗

Prosthetic Rehabilitation of a Patient with Rare and Severe Enamel Renal Syndrome.Semantic proximity Read ↗

FAM20A mutations and transcriptome analyses of dental pulp tissues of enamel renal syndrome.Semantic proximity Read ↗

Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations.Semantic proximity Read ↗

Enamel-renal syndrome in 2 patients with a mutation in FAM20 A and atypical hypertrichosis and hearing loss phenotypes.Semantic proximity Read ↗

Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations.Semantic proximity Read ↗

Molecular Study of FAM20A Gene and Biochemical Analysis for Amelogenesis Imperfecta Patients.Semantic proximity Read ↗

FAM20A mutations associated with enamel renal syndrome.Semantic proximity Read ↗

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