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

Identification of an IGSF3 mutation in a family with congenital nasolacrimal duct obstruction.

Clinical genetics - 1 Dec 2014

Foster J, Kapoor S, Diaz-Horta O, Singh A, Abad C, Rastogi A, Moharana R, Tekeli O, Walz K, Tekin M

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to Child, Preschool
Share to Immunoglobulins
Share to Membrane Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Pedigree

Source

Identifiers

PMID: 24372406
DOI: 10.1111/cge.12321

Genes

IGSF3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of an IGSF3 mutation in a family with congenital nasolacrimal duct obstruction.PMID 24372406Read ↗

FGF10/IGSF3 Variants in Bony Congenital Nasolacrimal Duct Obstruction: A Genotype-Phenotype Study of Syndromic Versus Isolated Disease.Semantic proximity Read ↗

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

Novel mutation in KIF23 causing congenital dyserythropoietic anemia type III in patients who underwent allogeneic hematopoietic stem cell transplantation.Semantic proximity Read ↗

ABCA3 c.838C>T (p.Arg280Cys, R280C) and c.697C>T (p.Gln233Ter, Q233X, Q233*) as Causative Variants for RDS: a Review of the Literature and Family Case StudySemantic proximity Read ↗

Identification of somatic KRAS mutation in a Korean baby with nevus sebaceus syndrome.Semantic proximity Read ↗

Novel AP3B1 mutations in a Hermansky-Pudlak syndrome type2 with neonatal interstitial lung disease.Semantic proximity Read ↗

A novel mutation in FOXN1 resulting in SCID: a case report and literature review.Semantic proximity Read ↗

Identification of a novel S249C FGFR3 mutation in a keratinocytic epidermal naevus syndrome.Semantic proximity Read ↗

Congenital chloride diarrhea in a Japanese neonate with a novel SLC26A3 mutation.Semantic proximity Read ↗

Branchio-oculo-facial syndrome in a newborn caused by a novel TFAP2A mutation.Semantic proximity Read ↗

Interstitial lung disease in two brothers with novel compound heterozygous ABCA3 mutations.Semantic proximity Read ↗

Cutis laxa with pulmonary emphysema, conjunctivochalasis, nasolacrimal duct obstruction, abnormal hair, and a novel FBLN5 mutation.Semantic proximity Read ↗

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