GLYT1 encephalopathy: Further delineation of disease phenotype and discussion of pathophysiological mechanisms.
Mademont-Soler I, Casellas-Vidal D, Trujillo A, Espuña-Capote N, Maroto A, García-González MDM, Ruiz MD, Diego-Álvarez D, Queralt X, Perapoch J, Obón M.
Mademont-Soler I, et al.
Am J Med Genet A. 2021 Feb;185(2):476-485. doi: 10.1002/ajmg.a.61996. Epub 2020 Dec 2.
Am J Med Genet A. 2021.
PMID: 33269555
SNP array together with Sanger sequencing were performed in a newborn with arthrogryposis and severe neurological impairment. The novel genetic variant c.997delC in SLC6A9 was detected in homozygous state in the patient. ...
SNP array together with Sanger sequencing were performed in a newborn with arthrogryposis and severe neurological impairment. The novel gene …