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

LADD syndrome is caused by FGF10 mutations.

Clinical genetics - 1 Apr 2006

Milunsky J M, Zhao G, Maher T A, Colby R, Everman D B

Abstract excerpt

Lacrimo-auriculo-dento-digital syndrome [LADD (MIM 149730)] is an autosomal-dominant multiple congenital anomaly disorder characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary systems, cup-shaped ears, hearing loss, and dental and digital anomalies. Loss of function mutations in FGF10 were recently described in aplasia of the lacrimal and salivary glands [ALSG (MIM 180920; MIM 103420)]...

Read the complete abstract on PubMed

Topics

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

Share to Abnormalities, Multiple
Share to Base Sequence
Share to Child, Preschool

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

Share to Ear, External

Share to Fibroblast Growth Factor 10

Share to Salivary Glands

Share to Syndrome

Share to Tooth Abnormalities

Source

Identifiers

PMID: 16630169
DOI: 10.1111/j.1399-0004.2006.00597.x

Genes

FGF10

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

LADD syndrome is caused by FGF10 mutations.PMID 16630169Read ↗

Mutations in different components of FGF signaling in LADD syndrome.Semantic proximity Read ↗

Mutations in the gene encoding fibroblast growth factor 10 are associated with aplasia of lacrimal and salivary glands.Semantic proximity Read ↗

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

Identification of a novel missence mutation in FGFR3 gene in an Iranian family with LADD syndrome by Next-Generation Sequencing.Semantic proximity Read ↗

Partial penetrance and phenotypic variability of aplasia of lacrimal and salivary glands caused by a novel FGF10 donor splice-site mutation.Semantic proximity Read ↗

LADD syndrome with glaucoma is caused by a novel gene.Semantic proximity Read ↗

Molecular pathology of the fibroblast growth factor family.Semantic proximity Read ↗

Variants in FGF10 cause isolated neonatal lung developmental disorderSemantic proximity Read ↗

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

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

Interrogation of a lacrimo-auriculo-dento-digital syndrome protein reveals novel modes of fibroblast growth factor 10 (FGF10) function.Semantic proximity Read ↗

Fibroblast growth factor 10.Semantic proximity Read ↗

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