Genetic analysis of a child with severe intellectual disability caused by a novel variant in the FERM domain of the FRMPD4 protein

In this study, we expand the spectrum of FRMPD4 variants and suggest that the clinical awareness of the genetic diagnosis of nonsyndromic ID should be strengthened.PMID:38562040

Source: Journal of Genetics - April 2, 2024 Category: Genetics & Stem Cells Authors: Hua Pan Feng Zhu Kun Chen Yin Zhang Source Type: research