The Frog Xenopus as a Model to Study Joubert Syndrome: The Case of a Human Patient With Compound Heterozygous Variants in PIBF1

Joubert syndrome (JS) is a congenital autosomal-recessive or—in rare cases–X-linked inherited disease. The diagnostic hallmark of the so-called molar tooth sign describes the morphological manifestation of the mid- and hind-brain in axial brain scans. Affected individuals show delayed development, i...

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Detalles Bibliográficos
Autores principales: Ott, Tim, Kaufmann, Lilian, Granzow, Martin, Hinderhofer, Katrin, Bartram, Claus R., Theiß, Susanne, Seitz, Angelika, Paramasivam, Nagarajan, Schulz, Angela, Moog, Ute, Blum, Martin, Evers, Christina M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Physiology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6397843/
https://www.ncbi.nlm.nih.gov/pubmed/30858804
http://dx.doi.org/10.3389/fphys.2019.00134

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