Terminal 6p deletion syndrome mimicking CHARGE syndrome: A case report
نویسندگان
چکیده
منابع مشابه
Terminal 6p deletion syndrome mimicking CHARGE syndrome: A case report.
The clinical features associated with terminal 6p deletion syndrome include anterior eye chamber defects, hearing loss, congenital heart anomalies and characteristic facies along with developmental delays. These features overlap with a number of other conditions including CHARGE syndrome. This acronym stands for non-random association of anomalies including coloboma of the eye, heart anomalies,...
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ژورنال
عنوان ژورنال: Journal of Pediatric Genetics
سال: 2015
ISSN: 2146-4596,2146-460X
DOI: 10.3233/pge-13055