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Unusual Presentation of Nephroblastoma in an Adolescent: A Case of Initial Misdiagnosis as a Renal Abscess. [PDF]
CureusJaber M, Alameh W.
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The Triple Procedure in Patients with Congenital Aniridia. [PDF]
J Clin MedWowra BH +4 more
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Expanding the Early Childhood Manifestations of <i>ITPR1</i> Heterozygous Variants Beyond Congenital Ataxia and Gillespie Syndrome. [PDF]
Neurol GenetTerry LE +6 more
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Metabolic and neuroactivity imbalances in plasma from aniridia patients withPAX6haploinsufficiency
Cunha DL +4 more
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Journal of Glaucoma, 2002
Aniridia is a congenital developmental anomaly of the eye that usually affects both eyes. The development of the iris, cornea, lens, angle, optic nerve and retina is disturbed. Aniridia is most often a hereditary disease with an autosomal dominant, rarely autosomal recessive inheritance, but sporadic cases are also possible.
D, Liláková +3 more
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Aniridia is a congenital developmental anomaly of the eye that usually affects both eyes. The development of the iris, cornea, lens, angle, optic nerve and retina is disturbed. Aniridia is most often a hereditary disease with an autosomal dominant, rarely autosomal recessive inheritance, but sporadic cases are also possible.
D, Liláková +3 more
openaire +4 more sources
Survey of Ophthalmology, 1984
Aniridia occurs as a phenotypically heterogeneous condition which may be inherited as an autosomal dominant disorder or as part of several systemic syndromes. It has been linked with the loci of chromosomes 1 and 2 and associated with the deletion of the p-13 band of chromosome 11. Aniridia may occur in a highly penetrant form in association with other
L B, Nelson +4 more
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Aniridia occurs as a phenotypically heterogeneous condition which may be inherited as an autosomal dominant disorder or as part of several systemic syndromes. It has been linked with the loci of chromosomes 1 and 2 and associated with the deletion of the p-13 band of chromosome 11. Aniridia may occur in a highly penetrant form in association with other
L B, Nelson +4 more
openaire +2 more sources