Identification of Compound Heterozygous Variants in LRP4 Demonstrates That a Pathogenic Variant outside the Third β-Propeller Domain Can Cause Sclerosteosis

Sclerosteosis is a high bone mass disorder, caused by pathogenic variants in the genes encoding sclerostin or LRP4. Both proteins form a complex that strongly inhibits canonical WNT signaling activity, a pathway of major importance in bone formation. So far, all reported disease-causing variants are...

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Detalles Bibliográficos
Autores principales: Huybrechts, Yentl, Boudin, Eveline, Hendrickx, Gretl, Steenackers, Ellen, Hamdy, Neveen, Mortier, Geert, Martínez Díaz-Guerra, Guillermo, Bracamonte, Milagros Sierra, Appelman-Dijkstra, Natasha M., Van Hul, Wim
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8774882/
https://www.ncbi.nlm.nih.gov/pubmed/35052419
http://dx.doi.org/10.3390/genes13010080

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