Article

Variants in FGF10 cause isolated neonatal lung developmental disorder

2023-05-23

Abstract excerpt

Fibroblast growth factor 10 (FGF10) is a signaling molecule with a well-established role for lung branching morphogenesis. Rare heterozygous, deleterious variants in the FGF10 gene are known causes of the lacrimo-auriculo-dento-digital (LADD) syndrome as well as aplasia of lacrimal and salivary glands (ALSG). Previous studies indicate that pathogenic variants in FGF10 can cause lethal human developmental disorde...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: c9c6a1c7-82e6-56c3-9a2d-ae734dcf67cc
DOI: 10.22541/au.168480547.77927589/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Variants in FGF10 cause isolated neonatal lung developmental disorderDOI 10.22541/au.168480547.77927589/v1Read

FGF10 and Human Lung Disease Across the Life SpectrumSemantic proximity Read

Descriptive and Functional Genomics in Neonatal Respiratory Distress Syndrome: From Lung Development to Targeted TherapiesSemantic proximity Read

Childhood rare lung disease in the 21st century: "-omics" technology advances accelerating discovery.Semantic proximity Read

Lung disease manifestations in Down syndrome.Semantic proximity Read

Interstitial lung disease in newborns.Semantic proximity Read

Genetic causes and clinical management of pediatric interstitial lung diseases.Semantic proximity Read

Fgf10 deficiency is causative for lethality in a mouse model of bronchopulmonary dysplasiaSemantic proximity Read

Novel Molecular and Phenotypic Insights into Congenital Lung Malformations.Semantic proximity Read

Pitfalls, problems, and progress in bronchopulmonary dysplasia.Semantic proximity Read

Update on Diffuse Lung Disease in Children.Semantic proximity Read

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

Clinical Presentation of the Longest Reported Living Individual With Bent Bone Dysplasia-FGFR2-Related.Semantic proximity Read