A novel missense mutation c.643T > C ( p.S216P ) was detected in the anterior segment malformation group .
O O O O B-SequenceVariant I-SequenceVariant I-SequenceVariant O B-SequenceVariant O O O O O B-DiseaseOrPhenotypicFeature I-DiseaseOrPhenotypicFeature I-DiseaseOrPhenotypicFeature O O