Article
Nonsyndromic 35 delG mutation of the connexin 26 gene associated with deafness in syndromic children: two case reports.
The Laryngoscope - 1 Mar 2004
Venail Frédéric, Roux Anne-Françoise, Pallares-Ruiz Nathalie, Claustres Mireille, Blanchet Patricia, Gardiner Quentin, Mondain Michel
Abstract excerpt
OBJECTIVES/HYPOTHESIS: Several genetic diseases, such as velocardiofacial syndrome Del(22q11) and Down syndrome, are associated with hearing impairment. STUDY DESIGN: Case reports. METHODS: The authors reported two cases of hearing-impaired children, one with Del (22q11) and one with Down syndrome, both with bilateral nonevolutive profound sensorineural deafness. Because of unusual features of their deafness and...
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