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

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

Abstract 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...

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Bibliographic Details
Main Authors: Jing Liu, Qin Liu, Shuting Yang, Na Ma, Jialun Pang, Ying Peng, Hui Xi, Zhengjun Jia, Yingchun Luo, Meiping Jiang, Yanling Teng, Wenxian Yu, Zhuo Li, Hua Wang
Format: Article
Language:English
Published: Wiley 2021-08-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
GPC3
prenatal diagnosis
Simpson–Golabi–Behmel syndrome 1
SNP array
ultrasound
Online Access:https://doi.org/10.1002/mgg3.1750

Internet

https://doi.org/10.1002/mgg3.1750

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