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

MLA

Marcello Niceta, et al. “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.” BMC Pediatrics, vol. 20, no. 1, Mar. 2020, pp. 1–9. EBSCOhost, https://doi.org/10.1186/s12887-020-2019-0.

APA

Marcello Niceta, Maria Lisa Dentici, Andrea Ciolfi, Romana Marini, Sabina Barresi, Francesca Romana Lepri, Antonio Novelli, Enrico Bertini, Marco Cappa, Maria Cristina Digilio, Bruno Dallapiccola, & Marco Tartaglia. (2020). 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. BMC Pediatrics, 20(1), 1–9. https://doi.org/10.1186/s12887-020-2019-0

Chicago

Marcello Niceta, Maria Lisa Dentici, Andrea Ciolfi, Romana Marini, Sabina Barresi, Francesca Romana Lepri, Antonio Novelli, et al. 2020. “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.” BMC Pediatrics 20 (1): 1–9. doi:10.1186/s12887-020-2019-0.