Copyright
©The Author(s) 2022.
World J Clin Cases. Jun 6, 2022; 10(16): 5441-5445
Published online Jun 6, 2022. doi: 10.12998/wjcc.v10.i16.5441
Published online Jun 6, 2022. doi: 10.12998/wjcc.v10.i16.5441
Figure 1
Clinical phenotype characteristics of the proband.
Figure 2 Sanger sequencing for detection of mutation.
A: DNA sequence electropherograms of the c.2557A>C mutation identified in exon 28 of PIGN in the patient and her brother; B: DNA sequence electropherograms of the c.980del mutation identified in exon 12 of PIGN in the patient her parents.
- Citation: Hou F, Shan S, Jin H. PIGN mutation multiple congenital anomalies-hypotonia-seizures syndrome 1: A case report. World J Clin Cases 2022; 10(16): 5441-5445
- URL: https://www.wjgnet.com/2307-8960/full/v10/i16/5441.htm
- DOI: https://dx.doi.org/10.12998/wjcc.v10.i16.5441