High myopia, hypertelorism, iris coloboma, exomphalos, absent corpus callosum, and sensorineural deafness: report of a case and further evidence for autosomal recessive inheritance.
Avunduk
A M
AM
Karadeniz Technical University, School of Medicine, Department of Ophthalmology, Trabzon, Turkey. avunduk@meds.ktu.edu.tr
Aslan
Y
Y
Kapicioğlu
Z
Z
Elmas
R
R
D000015:Abnormalities, Multiple / Q000235:genetics*; D061085:Agenesis of Corpus Callosum; D003103:Coloboma / Q000235:genetics*; D003241:Consanguinity; D003337:Corpus Callosum / Q000000981:diagnostic imaging; D005094:Exophthalmos / Q000235:genetics*; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D006972:Hypertelorism / Q000235:genetics*; D007223:Infant; D007498:Iris / Q000002:abnormalities*; D008297:Male; D009216:Myopia / Q000235:genetics*; D014057:Tomography, X-Ray Computed