1.
Arch Iran Med
; 27(4): 223-226, 2024 Apr 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38685849
RESUMO
Hereditary sensory autonomic neuropathy type VIII (HSAN-VIII) is a rare genetic disease that occurs due to mutations in the PRDM12 gene. Here, we describe a novel homozygous mutation c.826_840dupTGCAACCGCCGCTTC (p.Cys276_Phe280dup) on exon 5 in the PRDM12 gene identified by WES and confirmed using Sanger sequencing method.