A Rare Cause of Hyperinsulinemic Hypoglycemia: Kabuki Syndrome
Kabuki syndrome (KS) is a disease characterized by distinctive facial features, skeletal anomalies and delay in neuromotor development. KS 1 is an autosomal dominant condition caused by mutations in the KMT2D gene, whereas KS 2 is an X-linked disorder caused by mutations in the KDM6A gene. In the ma...
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| Main Authors: | , , , , , |
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| Format: | Book |
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Galenos Yayincilik,
2021-12-01T00:00:00Z.
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