Novel KMT5B variant associated with neurodevelopmental disorder in a Chinese family: A case report
Background: We report here the clinical and genetic features of KMT5B-related neurodevelopmental disorder caused by a novel heterozygous frameshift variant in KMT5B in a Chinese family. Case presentation: A 7-year-old Chinese boy with mild-to-moderate intellectual disability, significant language im...
| Автори: | , , , , , , , |
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| Формат: | Стаття |
| Мова: | English |
| Опубліковано: |
Elsevier
2024-04-01
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| Серія: | Heliyon |
| Предмети: | |
| Онлайн доступ: | http://www.sciencedirect.com/science/article/pii/S2405844024047170 |