Varaico: Literature-Extracted Genetic Variants

Gene:FGF10
Variant:p.K137*
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FGF10

NM_004465.2:p.K137*

Associated Papers

Esophageal Atresia, an Anomaly of VACTERL Association or Novel Feature of the FGF10 Gene: A Case Report.

Escalante-Reyes M et al.

Molecular Syndromology, 2025

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

Feng ZX et al.

Ophthalmology, 2024

Variants in FGF10 cause early onset of severe childhood interstitial lung disease: A detailed description of four affected children.

Schütz K et al.

Pediatric Pulmonology, 2023

Phenotypic spectrum of FGF10-related disorders: a systematic review.

Bzdega K et al.

Peerj, 2022

Lacrimo-auriculo-dento-digital syndrome: A novel mutation in a Korean family and review of literature.

Ryu YH et al.

Molecular Genetics & Genomic Medicine, 2020

Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.

Sheppard S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

29907799 (PubMed )
Supplement: 41436_2018_4_MOESM3_ESM.xlsx › variant-_capture___coverage

Novel FGF10 mutation in autosomal dominant aplasia of lacrimal and salivary glands.

Seymen F et al.

Clinical Oral Investigations, 2017

A new Fgf10 mutation in the mouse leads to atrophy of the harderian gland and slit-eye phenotype in heterozygotes: a novel model for dry-eye disease?

Puk O et al.

Investigative Ophthalmology & Visual Science, 2009

Molecular pathology of the fibroblast growth factor family.

Krejci P et al.

Human Mutation, 2009

An intronic alteration of the fibroblast growth factor 10 gene causing ALSG-(aplasia of lacrimal and salivary glands) syndrome.

Scheckenbach K et al.

Bmc Medical Genetics, 2008

Investigation of FGF10 as a candidate gene in patients with anorectal malformations and exstrophy of the cloaca.

Krüger V et al.

Pediatric Surgery International, 2008

LADD syndrome is caused by FGF10 mutations.

Milunsky JM et al.

Clinical Genetics, 2006

The genetic basis of inherited anomalies of the teeth. Part 2: syndromes with significant dental involvement.

Bailleul-Forestier I et al.

European Journal of Medical Genetics, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."