Article
Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma.
Human mutation - 1 Nov 2008
Wyatt Alexander, Bakrania Preeti, Bunyan David J, Osborne Robert J, Crolla John A, Salt Alison, Ayuso Carmen, Newbury-Ecob Ruth, Abou-Rayyah Y, Collin J Richard O, Robinson David, Ragge Nicola
Abstract excerpt
Severe ocular malformations, including anophthalmia-microphthalmia (AM), are responsible for around 25% of severe visual impairment in childhood. Recurrent interstitial deletions of 14q22-23 are associated with AM and a wide range of extra-ocular phenotypes including brain anomalies. The homeobox gene OTX2 is located at 14q22.3 and has recently been identified as mutated in AM patients. Eight human OTX2 mutations...
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