Cornelia de Lange syndrome

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A disorder with by characteristic facial features, prenatal and postnatal growth retardation, mental retardation, and often upper limb anomalies. Type 1 is caused by mutation in the NIPBL gene, which encodes a component of the cohesin complex, types 2 and 3 are due to mutations in other components of the complex.

Subjects: Medicine and Health — Chemistry.

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