Functional Analysis of Alleged NOGGIN Mutation G92E Disproves Its Pathogenic Relevance

We identified an amino acid change (p.G92E) in the Bone Morphogenetic Protein antagonist NOGGIN in a 22-month-old boy who presented with a unilateral brachydactyly type B phenotype. Brachydactyly type B is a skeletal malformation that has been associated with increased Bone Morphogenetic Protein pat...

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Detalles Bibliográficos
Autores principales: Zimmer, Julia, Doelken, Sandra C., Horn, Denise, Groppe, Jay C., Shore, Eileen M., Kaplan, Frederick S., Seemann, Petra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3329551/
https://www.ncbi.nlm.nih.gov/pubmed/22529972
http://dx.doi.org/10.1371/journal.pone.0035062

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3329551/
https://www.ncbi.nlm.nih.gov/pubmed/22529972
http://dx.doi.org/10.1371/journal.pone.0035062

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