Homozygous missense variant in BMPR1A resulting in BMPR signaling disruption and syndromic features

BACKGROUND: The bone morphogenetic protein (BMP) pathway is known to play an imperative role in bone, cartilage, and cardiac tissue formation. Truncating, heterozygous variants, and deletions of one of the essential receptors in this pathway, Bone Morphogenetic Protein Receptor Type1A (BMPR1A), have...

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Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: Russell, Bianca E., Rigueur, Diana, Weaver, Kathryn N., Sund, Kristen, Basil, Janet S., Hufnagel, Robert B., Prows, Cynthia A., Oestreich, Alan, Al‐Gazali, Lihadh, Hopkin, Robert J, Saal, Howard M., Lyons, Karen, Dauber, Andrew
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2019
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Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6825850/
https://ncbi.nlm.nih.gov/pubmed/31493347
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.969
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