Systems of the body develop in a modular manner. For example, neural development in primates is generally rapid, whereas dental development varies much more. In the present study, we examined development of the skull, teeth, and postcrania in a highly specialized leaping primate, Galago moholi.
View Article and Find Full Text PDFBackground: Bi-allelic variants in AFG2B (previously known as SPATA5L1) have recently been associated with a neurodevelopmental disorder with hearing loss and spasticity, as well as isolated hearing loss. We report on a 6 1/2-year-old girl with a history of global developmental delay, subsequent intellectual disability without relevant language acquisition, sensorineural hearing loss, muscular hypotonia and microcephaly.
Methods: We performed trio exome sequencing on the patient and her parents.
Micromachines (Basel)
September 2023
This work demonstrates the green production of a graphene ink for inkjet printing and its use as a hole transport layer (HTL) in an organic solar cell. Graphene as an HTL improves the selective hole extraction at the anode and prevents charge recombination at the electronic interface and metal diffusion into the photoactive layer. Graphite was exfoliated in water, concentrated by iterative centrifugation, and characterized by Raman.
View Article and Find Full Text PDFJ Med Genet
January 2024
Background: Pathogenic variants in the zinc finger protein coding genes are rare causes of intellectual disability and congenital malformations. Mutations in the gene causing GDACCF syndrome (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies; MIM #617260) have been reported in five individuals so far.
Methods: As a result of an international collaboration using GeneMatcher Phenome Central Repository and personal communications, here we describe the clinical and molecular genetic characteristics of 22 previously unreported individuals.