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Syndromic congenital sensorineural deafness, microtia and microdontia resulting from a novel homoallelic mutation in fibroblast growth factor 3 (FGF3)
We identified a homozygous missense mutation (c.196G → T) in fibroblast growth factor 3 (FGF3) in 21 affected individuals from a large extended consanguineous Saudi family, phenotypically characterized by autosomal recessive syndromic congenital sensorineural deafness, microtia and microdontia. All...
Tallennettuna:
| Päätekijät: | , , , , , , , |
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| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
Nature Publishing Group
2009
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2985964/ https://ncbi.nlm.nih.gov/pubmed/18701883 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2008.141 |
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