Isolated Robin sequence associated with a balanced t(2;17) chromosomal translocation
نویسندگان
چکیده
منابع مشابه
Isolated Robin sequence associated with a balanced t(2;17) chromosomal translocation.
R obin sequence (RS) is a developmental malformation characterised by micrognathia, cleft palate, and glossoptosis, leading to respiratory and feeding difficulties in the majority of affected neonates. 2 These three features constitute the primary diagnostic criteria of RS, although diagnosis on the basis of any two of these three classical features has been suggested. Typically the condition o...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 2004
ISSN: 1468-6244
DOI: 10.1136/jmg.2003.010157