Article
Partial chromosome 7 duplication with a phenotype mimicking the HOXA1 spectrum disorder.
Ophthalmic genetics - 1 Jan 2000
Abu-Amero Khaled K, Kondkar Altaf A, Salih Mustafa A M, Alorainy Ibrahim A, Khan Arif O, Oystreck Darren T, Bosley Thomas M
Abstract excerpt
PURPOSE: To evaluate possible monogenic and chromosomal anomalies in a patient with bilateral Duane retraction syndrome and hearing impairment resulting in a phenotype resembling the HOXA1 spectrum disorder. METHODS: Sequencing HOXA1 and performing high resolution array comparative genomic hybridization (arrayCGH). RESULTS: The proband had bilateral Duane retraction syndrome (DRS) with severe hearing loss...
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