Genetic analysis of consanguineous families presenting with congenital ocular defects.

Abstract

Anophthalmia and microphthalmia (A/M) are a group of rare developmental disorders that affect the size of the ocular globe. A/M may present as the sole clinical feature, but are also frequently found in a variety of syndromes. A/M is genetically heterogeneous and can be caused by chromosomal aberrations, copy number variations and single gene mutations. To… (More)
DOI: 10.1016/j.exer.2016.03.014

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