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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| Main Authors: | , , , , , , , , , |
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| Format: | Book |
| Published: |
BMC,
2018-09-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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