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

Lacrimo-auriculo-dento-digital syndrome with AIRE mutation: A case report.

Journal of stomatology, oral and maxillofacial surgery - 1 Nov 2022

Zhu Hui, Yu Guang-Yan

Abstract excerpt

Congenital absence or hypoplasia of the major salivary glands is rarely observed and easily overlooked in the clinic. Lacrimo-auriculo-dento-digital syndrome (LADD) is a congenital anomaly disorder that is characterized by aplasia, atresia, or hypoplasia of the lacrimal and salivary glands and caused by FGFR2, FGFR3, or FGF10 gene mutation. Autoimmune polyendocrine syndrome type 1 (APS-I) caused by an AIRE gene...

Read the complete abstract on PubMed

Topics

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

Share to Mutation
Share to Syndactyly
Share to Tooth Abnormalities

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Source

Identifiers

PMID: 35870793
DOI: 10.1016/j.jormas.2022.07.014

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Lacrimo-auriculo-dento-digital syndrome with AIRE mutation: A case report.PMID 35870793Read ↗

Lacrimo‐auriculo‐dento‐digital syndrome: A novel mutation in a Korean family and review of literatureSemantic proximity Read ↗

Dental issues in lacrimo-auriculo-dento-digital syndrome: An autosomal dominant condition with clinical and genetic variability.Semantic proximity Read ↗

Genotype-Phenotype Delineation of Autoimmune Polyendocrinopathy, Candidiasis, and Ectodermal Dystrophy in a Pediatric Patient: A Case Report.Semantic proximity Read ↗

Leber congenital amaurosis as the initial and essential manifestation in a Chinese patient with autoimmune polyglandular syndrome Type 1.Semantic proximity Read ↗

Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy in Two Siblings: Same Mutations but Very Different Phenotypes.Semantic proximity Read ↗

Auriculocondylar Syndrome: Pathogenesis, Clinical manifestations and Surgical therapiesSemantic proximity Read ↗

Auriculocondylar syndrome: Pathogenesis, clinical manifestations and surgical therapies.Semantic proximity Read ↗

APS-I/APECED: the clinical disease and therapy.Semantic proximity Read ↗

Novel compound heterozygous AIRE mutations in a Japanese patient with APECED.Semantic proximity Read ↗

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy: report of three cases from Iran.Semantic proximity Read ↗

Novel homozygous AIRE mutation in a German patient with severe APECED.Semantic proximity Read ↗

Bony Congenital Nasolacrimal Duct Obstruction: A Novel Phenotype of Aplasia of Lacrimal and Major Salivary Glands.Semantic proximity Read ↗

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