Coloboma Of Macula And Skeletal Anomalies

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Retrieved

2019-09-22

Source

Omim

Trials

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Genes

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Drugs

Adeno-associated virus serotype 8 containing the human RdCVF sequence and the human RdCVFL sequence, Combination of three adeno-associated viral vectors of serotype 8 containing the 5'-, the body- and the 3'- coding sequences of human CEP290 fused to inteins

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Phillips and Griffiths (1969) described a brother and sister with bilateral macular coloboma, cleft palate, hallux valgus and other abnormalities. The parents were not related. The ocular trait was similar to that described by Sorsby as a dominant and listed here as 'coloboma of the macula with type B brachydactyly' (120400). Digital abnormalities present in the sibs reported by Phillips and Griffiths were of relatively mild type and different nature than those in Sorsby's family.