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CASE REPORT

An atypical presentation of Joubert syndrome due to a novel mutation in ZNF423 gene

Sivathanu Deepika, Vetrichelvan Dhanarathnamoorthy, Balakrishnan Umamaheswari, Manokaran Ranjith Kumar

Year : 2020| Volume: 15| Issue : 3 | Page no: 294-296

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1 Genotype–phenotype correlates in Joubert syndrome: A review
Simone Gana, Valentina Serpieri, Enza Maria Valente
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 2022;
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