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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.

Marcello NicetaMaria Lisa DenticiAndrea CiolfiRomana MariniSabina BarresiFrancesca Romana LepriAntonio NovelliEnrico BertiniMarco CappaMaria Cristina DigilioBruno DallapiccolaMarco Tartaglia
Published in: BMC pediatrics (2020)
Beside the clinical variability of Joubert syndrome, co-occurrence of mutations in ciliopathy-associated genes may contribute to increase the clinical complexity of the trait.
Keyphrases
  • growth hormone
  • genome wide
  • case report
  • gene expression
  • transcription factor
  • genome wide analysis