OTFC sendromu
Otofaciocervical syndrome
Kalıtsal (AR)
Dış kulak aomalileri
İşitme sorunları
Ductus nasolacrimalis stenozu
Gözyaşı yokluğu
Mikroretrognati
Diş çürükleri
Maloklüzyon
Yüksek omuzlar
Kanatsı skapulalar
El ve ayak anomalileri
Nörolojik bulgular
Pohl E, Aykut A, Beleggia F, et al. A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome. Human Genetisc, 132: 1311-1320, 2013
Paganini I, Sestini R, Capone G L, et al. A novel PAX1 null homozygous mutation in autosomal recessive otofaciocervical syndrome associated with severe combined immunodeficiency. Clinical Genetics, 92: 664-668, 2017
Patil SJ, Bhowmik AD, Bhat V, et al. Autosomal recessive otofaciocervical syndrome type 2 with novel homozygous small insertion in PAX1 gene. American Journal of Medical Genetics, 176A: 1200-1206, 2018