B9D2

Publications

Radhakrishnan P et al. Meckel syndrome: Clinical and mutation profile in six fetuses. Clin Genet. 2019;96(6):560-565. PMID: 31411728.

Bachmann-Gagescu R et al. Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. J Med Genet. 2015;52(8):514-22. PMID: 26092869.

Dowdle WE et al. Disruption of a ciliary B9 protein complex causes Meckel syndrome. Am J Hum Genet. 2011;89(1):94-110. Erratum in: Am J Hum Genet. 2011;89(4):589. PMID: 21763481.