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

ConclusionIn this study, we described a novel heterozygous mutation (c.146dupA. p.S50Vfs*22) of genePTHLH 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 ofPTHLH in BDE.

Source: Molecular Genetics & Genomic Medicine - February 6, 2024 Category: Genetics & Stem Cells Authors: Jian Sun, Nian Yang, Zhengquan Xu, Hongbo Cheng, Xiangxin Zhang Tags: ORIGINAL ARTICLE Source Type: research