HIGHLIGHTS
- who: Nenad Koruga and colleagues from the Department of Neurosurgery, University Hospital Center, have published the paper: First Reported Case of Gabriele-de Vries Syndrome with Spinal Dysraphism, in the Journal: Children 2023, 10, 623. of 13/03/2023
- what: The authors report the case of a newborn male patient with a novel novo pathogenic variant in the Guanine Nucleotide-Binding Protein Alpha Stimulating (GNAS) gene which was identified by whole-exome sequencing. Facial dysmorphism was presented in the proband , and according to the review article by Khamirani et_al, facial dysmorphism was presented in all . . .
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