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...

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Detalles Bibliográficos
Autores principales: Zhang, HaoZheng, Guo, Xuening, Yang, Chun, Zhang, Kaihui, Wang, Dong, Wang, Juan, Liu, Yi, Kang, Lili, Liu, Qinghua, Li, Xiaoying
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2023
Materias:
3500
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

Internet

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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