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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

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...

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Detalles Bibliográficos
Autores principales:	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
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2020
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7066839/ https://www.ncbi.nlm.nih.gov/pubmed/32164589 http://dx.doi.org/10.1186/s12887-020-2019-0

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