Genetic and Phenotypic Spectrum of KBG Syndrome: A Report of 13 New Chinese Cases and a Review of the Literature

Genetic and Phenotypic Spectrum of KBG Syndrome: A Report of 13 New Chinese Cases and a Review of the Literature

KBG syndrome (KBGS) is a rare autosomal dominant inherited disease that involves multiple systems and is associated with variations in the ankyrin repeat domain 11 (<i>ANKRD11</i>) gene. We report the clinical and genetic data for 13 Chinese KBGS patients diagnosed by genetic testing and...

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Bibliographic Details
Main Authors: Fenqi Gao, Xiu Zhao, Bingyan Cao, Xin Fan, Xiaoqiao Li, Lele Li, Shengbin Sui, Zhe Su, Chunxiu Gong
Format: Article
Language:English
Published: MDPI AG 2022-03-01
Series:Journal of Personalized Medicine
Subjects:
rare disease
KBG syndrome
<i>ANKRD11</i> gene
genotype–phenotype relationship
development retardation
Online Access:https://www.mdpi.com/2075-4426/12/3/407

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https://www.mdpi.com/2075-4426/12/3/407

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