Functional analysis of alleged NOGGIN mutation G92E disproves its pathogenic relevance.

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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Bibliographic Details
Main Authors: Julia Zimmer, Sandra C Doelken, Denise Horn, Jay C Groppe, Eileen M Shore, Frederick S Kaplan, Petra Seemann
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2012-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC3329551?pdf=render

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http://europepmc.org/articles/PMC3329551?pdf=render

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