Clinical analysis of Gabriele ‐de Vries caused by YY1 mutations and literature review

ConclusionsThe mutation site is reported for the first time, and its discovery would expand the mutation spectrum of theYY1 gene. The main clinical manifestations of Gabriele-de Vries syndrome are developmental delay/intellectual disability, craniofacial dysplasia, intrauterine growth delay, low birth weight, feeding difficulties, and rare congenital malformations. Genetic tests are crucial techniques for its diagnosis because of its nonspecific clinical manifestations.

Source: Molecular Genetics & Genomic Medicine - September 2, 2023 Category: Genetics & Stem Cells Authors: Jingjing Yang, Chaonan Yu, Nan Lyn, Lei Liu, Dongxiao Li, Qing Shang Tags: ORIGINAL ARTICLE Source Type: research