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

• Main Authors: Anna Pichiecchio (Author), Giovanni Vitale (Author), Camilla Caporali (Author), Cecilia Parazzini (Author), Donatella Milani (Author), Maria Paola Recalcati (Author), Laura D'Amico (Author), Sabrina Signorini (Author), Umberto Balottin (Author), Stefano Bastianello (Author)
• Format: Book
• Published: BMC, 2018-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...