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Article

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

PloS one - 1 Jan 2012

Zimmer Julia, Doelken Sandra C, Horn Denise, Groppe Jay C, Shore Eileen M, Kaplan Frederick S, Seemann Petra

Abstract excerpt

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 described as causing...

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Identifiers

PMID: 22529972
DOI: 10.1371/journal.pone.0035062
PMCID: PMC3329551

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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