Article
Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia.
American journal of medical genetics. Part A - 30 Jan 2003
Schimmenti Lisa A, de la Cruz June, Lewis Richard Alan, Karkera J D, Manligas Glenda S, Roessler Erich, Muenke Maximilian
Abstract excerpt
Ocular (uveoretinal) colobomas occur in one in 10,000 individuals and present a substantive cause of congenital poor vision. The genetic bases of most forms of uveoretinal coloboma are elusive; mutations in PAX2 are found in only a few cases of coloboma of the retina and optic nerve that occur with renal anomalies as part of the renal-coloboma syndrome (MIM#120330; #167409). From experimental data that upstream...
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