R2
For forældre, plejere, sundhedsplejersker og lærere opstår der ofte bekymringer og spørgsmål vedrørende pleje og velvære for personer med Cornelia de Lange syndrom.
R2: We propose consensus criteria based on the presence of a combination of signs and features (Table 1). A diagnosis of classic CdLS can be confirmed if a score of 11 is reached, irrespective of the presence of a causative variant in a gene known to result in CdLS.
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