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Joubert syndrome (JBTS) is a rare genetic disorder that is characterized by midbrain‐hindbrain malformations. Multiple variants in genes that affect ciliary function contribute to the genetic and clinical heterogeneity of… Click to show full abstract
Joubert syndrome (JBTS) is a rare genetic disorder that is characterized by midbrain‐hindbrain malformations. Multiple variants in genes that affect ciliary function contribute to the genetic and clinical heterogeneity of JBTS and its subtypes. However, the correlation between genotype and phenotype has not been elucidated due to the limited number of patients available.
Keywords:
variability joubert;
joubert syndrome;
heterogeneity intrafamilial;
clinical heterogeneity;
intrafamilial variability
Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2021
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Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2021
Link to full text (if available)
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recommendations!