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

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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Bibliographic Details
Main Authors: Tim Ott, Lilian Kaufmann, Martin Granzow, Katrin Hinderhofer, Claus R. Bartram, Susanne Theiß, Angelika Seitz, Nagarajan Paramasivam, Angela Schulz, Ute Moog, Martin Blum, Christina M. Evers
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-02-01
Series:Frontiers in Physiology
Subjects:
PIBF1
Joubert syndrome
Xenopus
molar tooth sign
cilia
ciliopathy
Online Access:https://www.frontiersin.org/article/10.3389/fphys.2019.00134/full

Internet

https://www.frontiersin.org/article/10.3389/fphys.2019.00134/full

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