A novel de novo TMEM63A variant in a patient with severe hypomyelination and global developmental delay
Shinobu Fukumura, Takuya Hiraide, Akiyo Yamamoto, Kousuke Tsuchida, Kazushi Aoto, Mitsuko Nakashima, Hirotomo Saitsu
Topics & Concepts
Global developmental delayMissense mutationHypotoniaSanger sequencingExome sequencingWhite matterIntellectual disabilityCompound heterozygosityMedicinePediatricsGeneticsBiologyMagnetic resonance imagingNeuroscienceMutationPhenotypeGeneRadiologyRNA regulation and diseaseFetal and Pediatric Neurological DisordersNeurogenesis and neuroplasticity mechanisms