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