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

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

Abstract 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 intellectu...

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Bibliographic Details
Main Authors: Anna Pichiecchio, Giovanni Vitale, Camilla Caporali, Cecilia Parazzini, Donatella Milani, Maria Paola Recalcati, Laura D’Amico, Sabrina Signorini, Umberto Balottin, Stefano Bastianello
Format: Article
Language:English
Published: BMC 2018-09-01
Series:BMC Medical Genomics
Subjects:
OTX2
MRI
Microphthalmia
Anophthalmia
Pituitary
Cerebellum
Online Access:http://link.springer.com/article/10.1186/s12920-018-0405-3

Internet

http://link.springer.com/article/10.1186/s12920-018-0405-3

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