Associated Papers
Kabuki syndrome complicated by severe immune thrombocytopenia and autoimmune thyroiditis: Identification of a novel pathogenic mutation.
Qu X et al.
British Journal of Haematology, 2024
[Analysis of a case of Kabuki syndrome due to a novel variant of KMT2D gene].
Huang J et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2024
Unmasking the challenges of Kabuki syndrome in adulthood: A case series.
Priestley JRC et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2023
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