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Adam Irom

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https://www.readbyqxmd.com/read/25091951/novel-adam9-homozygous-mutation-in-a-consanguineous-egyptian-family-with-severe-cone-rod-dystrophy-and-cataract
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Wael M El-Haig, Cecilia Jakobsson, Tatiana Favez, Daniel F Schorderet, Hana Abouzeid
OBJECTIVE: To genetically and phenotypically describe a new ADAM9 homozygous mutation in a consanguineous family from Egypt with autosomal recessive cone-rod dystrophy (arCRD), anterior polar and posterior subcapsular cataract. DESIGN, SETTING AND PARTICIPANTS: The parents and their six children were included. They underwent a complete ophthalmic examination with fundus photography and optical coherence tomography (OCT). INTERVENTION: DNA was extracted from peripheral blood from all family members...
December 2014: British Journal of Ophthalmology
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