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

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

Orphanet journal of rare diseases - 14 Jun 2014

de la Dure-Molla Muriel, Quentric Mickael, Yamaguti Paulo Marcio, Acevedo Ana-Carolina, Mighell Alan J, Vikkula Miikka, Huckert Mathilde, Berdal Ariane, Bloch-Zupan Agnes

Abstract excerpt

Amelogenesis imperfecta (AI) is a genetically and clinically heterogeneous group of inherited dental enamel defects. Commonly described as an isolated trait, it may be observed concomitantly with other orodental and/or systemic features such as nephrocalcinosis in Enamel Renal Syndrome (ERS, MIM#204690), or gingival hyperplasia in Amelogenesis Imperfecta and Gingival Fibromatosis Syndrome (AIGFS, MIM#614253)....

Topics

Join the communities discussing this publication.

Amelogenesis Imperfecta
Bone and Dental Protein Studies
Dental Enamel Proteins
Genes, Recessive
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Nephrocalcinosis

Tooth Abnormalities

Source

Open in PubMed Open full text

Identifiers

PMID: 24927635
DOI: 10.1186/1750-1172-9-84
PMCID: PMC4071802

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

Pathognomonic oral profile of Enamel Renal Syndrome (ERS) caused by recessive FAM20A mutations.PMID 24927635Read ↗

Enamel Renal Syndrome: A Scoping Review ProtocolSemantic proximity Read ↗

Nephrocalcinosis in Amelogenesis Imperfecta Caused by the FAM20A Mutation.Semantic proximity Read ↗

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

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

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

FAM20A mutations can cause enamel-renal syndrome (ERS).Semantic proximity Read ↗

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

Enamel-renal-gingival syndrome and FAM20A mutations.Semantic proximity Read ↗

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

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

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

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

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