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New insights into the phenotypic spectrum of 14q22q23 deletions: a case report and literature review

BACKGROUND: Mutations occurring in the orthodenticle homeobox 2 gene (OTX2) are responsible for a rare genetic syndrome, characterized mainly by microphthalmia/anophthalmia associated with extra-ocular defects such as brain malformations, pituitary abnormalities, short stature and intellectual disab...

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Detalles Bibliográficos
Autores principales:	Pichiecchio, Anna, Vitale, Giovanni, Caporali, Camilla, Parazzini, Cecilia, Milani, Donatella, Recalcati, Maria Paola, D’Amico, Laura, Signorini, Sabrina, Balottin, Umberto, Bastianello, Stefano
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2018
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6162925/ https://www.ncbi.nlm.nih.gov/pubmed/30268123 http://dx.doi.org/10.1186/s12920-018-0405-3

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