Associated Papers
Exome sequencing confirms the clinical diagnosis of both joubert syndrome and klinefelter syndrome with keratoconus in a han Chinese family.
Fang X et al.
Frontiers in Genetics, 2024
Long-Surviving Adult Siblings With Joubert Syndrome Harboring a Novel Compound Heterozygous CPLANE1 Variant.
Matoba K et al.
Neurology. Genetics, 2022
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