Genotype–phenotype correlates in Joubert syndrome: A review
Author:
Affiliation:
1. Neurogenetics Research Center IRCCS Mondino Foundation Pavia Italy
2. Department of Molecular Medicine University of Pavia Pavia Italy
Funder
Fondazione Pierfranco e Luisa Mariani
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.c.31963
Reference182 articles.
1. Mutations in CSPP1 Lead to Classical Joubert Syndrome
2. Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome
3. Mutations in LAMA1 Cause Cerebellar Dysplasia and Cysts with and without Retinal Dystrophy
4. Targeted Next-Generation Sequencing of 406 Genes Identified Genetic Defects Underlying Congenital Heart Disease in Down Syndrome Patients
5. A novel pathogenic variant in OFD1 results in X‐linked Joubert syndrome with orofaciodigital features and pituitary aplasia
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