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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...
Autores principales: | Zimmer, Julia, Doelken, Sandra C., Horn, Denise, Groppe, Jay C., Shore, Eileen M., Kaplan, Frederick S., Seemann, Petra |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2012
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Materias: | |
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 |
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