Novel phenotypic feature in a patient with a recurrent NOTCH2 nonsense mutation.

Abstract excerpt

Pathogenic variants in NOTCH2 which encodes a single-pass transmembrane protein have been identified as a cause of several autosomal dominant congenital disorders. In particular, truncating mutations in exon 34 have been found in patients with skeletal abnormalities and dysmorphic features. We describe a patient with a de novo variant in NOTCH2 who displayed features of both Hajdu-Cheney syndrome (HJCYS) and...

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