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Genetic and Phenotypic Spectrum of <i>KMT2D</i> Variants in Taiwanese Case Series of Kabuki Syndrome

Kabuki syndrome (KS) is a rare genetic disorder characterized by distinct facial features, intellectual disability, and multiple congenital anomalies. We conducted a comprehensive analysis of the genetic and phenotypic spectrum of KS in a Taiwanese patient group of 23 patients. <i>KMT2D</i> variants...

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Автори: Chung-Lin Lee, Chih-Kuang Chuang, Ming-Ren Chen, Ju-Li Lin, Huei-Ching Chiu, Ya-Hui Chang, Yuan-Rong Tu, Yun-Ting Lo, Hsiang-Yu Lin, Shuan-Pei Lin
Формат: Artigo
Мова:Inglês
Опубліковано: MDPI AG 2024-08-01
Серія:Diagnostics
Предмети:
Kabuki syndrome
<i>KMT2D</i>
phenotypic heterogeneity
Taiwan
Онлайн доступ:https://www.mdpi.com/2075-4418/14/16/1815
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