Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis
<p>Abstract</p> <p>Background</p> <p>Usher syndrome (USH) combines sensorineural deafness with blindness. It is inherited in an autosomal recessive mode. Early diagnosis is critical for adapted educational and patient management choices, and for genetic counseling. To d...
Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
BMC
2011-05-01
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Series: | Orphanet Journal of Rare Diseases |
Online Access: | http://www.ojrd.com/content/6/1/21 |