1. Schinzel A. Postaxial polydactyly, hallux duplication, absence of the corpus callosum, macrencephaly and severe mental retardation: a new syndrome? Helv Paediatr Acta. 1979;34:141–6.
2. Schinzel A, Schmid W. Hallux duplication, postaxial polydactyly, absence of the corpus callosum, severe mental retardation, and additional anomalies in two unrelated patients: a new syndrome. Am J Med Genet. 1980;6:241–9.
3. Putoux A, et al. KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes. Nat Genet. 2011;43:601–6.
4. Parisi M, Glass I. Joubert syndrome and related disorders. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mefford HC, Stephens K, Amemiya A, Ledbetter N (eds). SourceGeneReviews® [Internet]. University of Washington: Seattle, USA, 1993-2013.
5. Valente EM, Dallapiccola B, Bertini E. Joubert syndrome and related disorders. Handb Clin Neurol. 2013;113:1879–88.