Kroes, H.Y.

mutation patient syndrome sequence disease ahi 1 mutations genet joubert syndrome change deletion identi foxc 1 joubert netherland analysis study number phenotype hearing identi fied dystrophy sequence changes fication protein anomaly copy number changes novel pitx 2 amplicon table family hearing loss pitx 2 mutations resequencing identi fication sequencing feature mother disease genes region / european journal resequencing chip university cep 290 hum mol genet nphp 1 deletions ampli p.arg genetic parent abnormality ophthalmology pigmentosa retiniti glaucoma center hypoplasia variant pitx 2 deletions patient vi -3 department screening sample retinitis pigmentosa ahi 1 umbilical anomaly cause mertk middle ear infections father leber ophthalmol amaurosi multiplex cep 290 mrna journal allele macular ahi 1 gene foxc 1 deletions