Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia

We and others have reported mutations in LONP1, a gene coding for a mitochondrial chaperone and protease, as the cause of the human CODAS (cerebral, ocular, dental, auricular and skeletal) syndrome (MIM 600373). Here, we delineate a similar but distinct condition that shares the epiphyseal, vertebra...

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Bibliografski detalji
Izdano u:Sci Rep
Glavni autori: Royer-Bertrand, Beryl, Castillo-Taucher, Silvia, Moreno-Salinas, Rodrigo, Cho, Tae-Joon, Chae, Jong-Hee, Choi, Murim, Kim, Ok-Hwa, Dikoglu, Esra, Campos-Xavier, Belinda, Girardi, Enrico, Superti-Furga, Giulio, Bonafé, Luisa, Rivolta, Carlo, Unger, Sheila, Superti-Furga, Andrea
Format: Artigo
Jezik:Inglês
Izdano: Nature Publishing Group 2015
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Article
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4657157/
https://ncbi.nlm.nih.gov/pubmed/26598328
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep17154
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