Functional Analysis of Alleged NOGGIN Mutation G92E Disproves Its Pathogenic Relevance
نویسندگان
چکیده
منابع مشابه
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 pathway activation in other patients. Previously, the amino acid change p.G92E in NOGGIN was describ...
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ژورنال
عنوان ژورنال: PLoS ONE
سال: 2012
ISSN: 1932-6203
DOI: 10.1371/journal.pone.0035062