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Clinical feature and genetic mutation of KBG syndrome diagnosed in neonatal period: A case report
RATIONALE: KBG syndrome (KBGS, OMIM: 148050), a rare genetic disorder, is clinically characterized by megalodontia, short stature, skeletal abnormalities, and nervous system manifestations. In the study, we explore the clinical and genetic characteristics of one neonate suffering KBGS caused by ANKR...
Autores principales: | Zhang, HaoZheng, Guo, Xuening, Yang, Chun, Zhang, Kaihui, Wang, Dong, Wang, Juan, Liu, Yi, Kang, Lili, Liu, Qinghua, Li, Xiaoying |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Lippincott Williams & Wilkins
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10553122/ https://www.ncbi.nlm.nih.gov/pubmed/37800809 http://dx.doi.org/10.1097/MD.0000000000035449 |
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