Associated Papers
Co-occurrence of mutations in KIF7 and KIAA0556 in Joubert syndrome with ocular coloboma, pituitary malformation and growth hormone deficiency: a case report and literature review.
Niceta M et al.
Bmc Pediatrics, 2020
Novel KIF7 Mutation in a Tunisian Boy with Acrocallosal Syndrome: Case Report and Review of the Literature.
Ibisler A et al.
Molecular Syndromology, 2015
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
Najmabadi H et al.
Nature, 2011
Select a paper to view details