A KDM6 A variant in a Chinese female patient with diabetes mellitus and oligomenorrhea: a case report
Abstract Background Kabuki syndrome (KS) is a rare, multisystemic genetic disorder caused by mutations in either the KMT2D or KDM6A genes. It is characterized by distinctive dysmorphic facial features, intellectual disability, and a variety of congenital anomalies. Endocrine manifestations such as g...
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| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2025-04-01
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| Series: | Journal of Medical Case Reports |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13256-025-05250-x |
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