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Comprehensive analysis of clinical spectrum and genotype associations in Chinese and literature reported KBG syndrome

BACKGROUND: Patients with KBG Syndrome due to ANKRD11 mutations and 16q24.3 microdeletions including ANKRD11 were identified. Classical and most frequent phenotypes include various degrees of intelligence disability (ID), short stature (SS), delayed bone age, macrodontia, distinctive facial features...

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Detalles Bibliográficos
Autores principales:	Li, Qiuyue, Sun, Chengjun, Yang, Lin, Lu, Wei, Luo, Feihong
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	AME Publishing Company 2021
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8107870/ https://www.ncbi.nlm.nih.gov/pubmed/34012832 http://dx.doi.org/10.21037/tp-20-385

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