Bone morphogenetic protein 4 (BMP4) loss-of-function variant associated with autosomal dominant Stickler syndrome and renal dysplasia

Stickler syndrome is a genetic disorder that can lead to joint problems, hearing difficulties and retinal detachment. Genes encoding collagen types II, IX and XI are usually responsible, but some families have no causal variant identified. We investigate a variant in the gene encoding growth factor...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Eur J Hum Genet
Prif Awduron: Nixon, Thomas R. W., Richards, Allan, Towns, Laura K., Fuller, Gavin, Abbs, Stephen, Alexander, Philip, McNinch, Annie, Sandford, Richard N., Snead, Martin P.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Springer International Publishing 2018
Pynciau:
Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC6460578/
https://ncbi.nlm.nih.gov/pubmed/30568244
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-018-0316-y
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