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: | article |
| Language: | EN |
| Published: |
Galenos Yayincilik
2021
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| Subjects: | |
| Online Access: | https://doaj.org/article/027c57406003485e89453a93e2924fd3 |
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