SMC1A

        For forældre, plejere, sundhedsplejersker og lærere opstår der ofte bekymringer og spørgsmål vedrørende pleje og velvære for personer med Cornelia de Lange syndrom. 

SMC1A is responsible for producing and maintaining the core component of the cohesin complex ring. Changes in SMC1A have been found in approximately 5% of individuals with CdLS.

Many individuals with changes in SMC1A usually display a non-classic phenotype and have fuller eyebrows, less shortening of the nasal bridge and a rounder face compared to individuals with changes in NIPBL.

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