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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Detalhes bibliográficos
Publicado no:BMC Med Genomics
Main Authors: Pichiecchio, Anna, Vitale, Giovanni, Caporali, Camilla, Parazzini, Cecilia, Milani, Donatella, Recalcati, Maria Paola, D’Amico, Laura, Signorini, Sabrina, Balottin, Umberto, Bastianello, Stefano
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2018
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6162925/
https://ncbi.nlm.nih.gov/pubmed/30268123
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12920-018-0405-3
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