A novel homozygous mutation of the PCNT gene in a Chinese patient with microcephalic osteodysplastic primordial dwarfism type II

ConclusionOur study identified a novelPCNT mutation associated with MOPD II, expanded the mutation spectrum of thePCNT gene and improved our understanding of the molecular basis of MOPD II.

Source: Molecular Genetics & Genomic Medicine - August 2, 2021 Category: Genetics & Stem Cells Authors: Haifeng Liu, Na Tao, Yan Wang, Yang Yang, Xiaoli He, Yu Zhang, Yuantao Zhou, Xiaoning Liu, Xingxing Feng, Meiyuan Sun, Fang Xu, Yanfang Su, Li Li Tags: CLINICAL REPORT Source Type: research