Prenatal case of Simpson–Golabi–Behmel syndrome with a de novo 370Kb‐sized microdeletion of Xq26.2 compassing partial GPC3 gene and review

BACKGROUND: Simpson–Golabi–Behmel syndrome type 1 (SGBS1) is a rare X‐linked recessive disorder characterized by pre‐ and postnatal overgrowth and a broad spectrum of anomalies including craniofacial dysmorphism, heart defects, renal, and genital anomalies. Due to the ultrasound findings are not pat...

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Detalles Bibliográficos
Autores principales: Liu, Jing, Liu, Qin, Yang, Shuting, Ma, Na, Pang, Jialun, Peng, Ying, Xi, Hui, Jia, Zhengjun, Luo, Yingchun, Jiang, Meiping, Teng, Yanling, Yu, Wenxian, Li, Zhuo, Wang, Hua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8404223/
https://www.ncbi.nlm.nih.gov/pubmed/34293831
http://dx.doi.org/10.1002/mgg3.1750

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