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
Chromosome Microarray Analysis and Exome Sequencing: Implementation in Prenatal Diagnosis of Fetuses with Digestive System Malformations.
Wang Y et al.
Genes, 2023
Novel compound heterozygous CPLANE1 variants identified in a Chinese family with Joubert syndrome.
Zhang C et al.
International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2021
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