Hypomorphic mutations of TRIP11 cause odontochondrodysplasia

Odontochondrodysplasia (ODCD) is an unresolved genetic disorder of skeletal and dental development. Here, we show that ODCD is caused by hypomorphic TRIP11 mutations, and we identify ODCD as the nonlethal counterpart to achondrogenesis 1A (ACG1A), the known null phenotype in humans. TRIP11 encodes G...

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Detalhes bibliográficos
Publicado no:JCI Insight
Main Authors: Wehrle, Anika, Witkos, Tomasz M., Unger, Sheila, Schneider, Judith, Follit, John A., Hermann, Johannes, Welting, Tim, Fano, Virginia, Hietala, Marja, Vatanavicharn, Nithiwat, Schoner, Katharina, Spranger, Jürgen, Schmidts, Miriam, Zabel, Bernhard, Pazour, Gregory J., Bloch-Zupan, Agnes, Nishimura, Gen, Superti-Furga, Andrea, Lowe, Martin, Lausch, Ekkehart
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Clinical Investigation 2019
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6413787/
https://ncbi.nlm.nih.gov/pubmed/30728324
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/jci.insight.124701
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