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...
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 |
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Format: | Article |
Language: | English |
Published: |
Frontiers Media S.A.
2019-02-01
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Series: | Frontiers in Physiology |
Subjects: | |
Online Access: | https://www.frontiersin.org/article/10.3389/fphys.2019.00134/full |
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