A novel heterozygous mutation in PTHLH causing autosomal dominant brachydactyly type E complicated with short stature

CONCLUSION: In this study, we described a novel heterozygous mutation (c.146dupA. p.S50Vfs*22) of gene PTHLH in a Chinese family. The mutation could induce a premature stop codon leading to a truncation of the protein. Our study broadened the mutation spectrum of PTHLH in BDE.PMID:38407575 | DOI:10.1002/mgg3.2393

Source: Molecular Medicine - February 26, 2024 Category: Molecular Biology Authors: Jian Sun Nian Yang Zhengquan Xu Hongbo Cheng Xiangxin Zhang Source Type: research