Novel Pathogenetic Variants in PTHLH and TRPS1 Genes Causing Syndromic Brachydactyly

Skeletal disorders, including both isolated and syndromic brachydactyly type E, derive from genetic defects affecting the fine tuning of the network of pathways involved in skeletogenesis and growth‐plate development. Alterations of different genes of this network may result in overlapping phenotype...

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Detalles Bibliográficos
Autores principales: Elli, Francesca Marta, Mattinzoli, Deborah, Lucca, Camilla, Piu, Matteo, Maffini, Maria A., Costanza, Jole, Fontana, Laura, Santaniello, Carlo, Forino, Concetta, Milani, Donatella, Bonati, Maria Teresa, Secco, Andrea, Gastaldi, Roberto, Alfieri, Carlo, Messa, Piergiorgio, Miozzo, Monica, Arosio, Maura, Mantovani, Giovanna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9305952/
https://www.ncbi.nlm.nih.gov/pubmed/34897794
http://dx.doi.org/10.1002/jbmr.4490

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9305952/
https://www.ncbi.nlm.nih.gov/pubmed/34897794
http://dx.doi.org/10.1002/jbmr.4490

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