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

BACKGROUND: Joubert syndrome is a recessive neurodevelopmental disorder characterized by clinical and genetic heterogeneity. Clinical hallmarks include hypotonia, ataxia, facial dysmorphism, abnormal eye movement, irregular breathing pattern cognitive impairment and, the molar tooth sign is the path...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:BMC Pediatr
Prif Awduron: Niceta, Marcello, Dentici, Maria Lisa, Ciolfi, Andrea, Marini, Romana, Barresi, Sabina, Lepri, Francesca Romana, Novelli, Antonio, Bertini, Enrico, Cappa, Marco, Digilio, Maria Cristina, Dallapiccola, Bruno, Tartaglia, Marco
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: BioMed Central 2020
Pynciau:
Case Report
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC7066839/
https://ncbi.nlm.nih.gov/pubmed/32164589
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12887-020-2019-0
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