Expanding the clinical and genetic spectrum of PCYT2-related disorders
Valentina Vélez-Santamaría(Bellvitge University Hospital), Aurora Pujol(Institució Catalana de Recerca i Estudis Avançats), Laura Planas‐Serra(Instituto de Salud Carlos III), Colleen Macmurdo(Baylor Scott & White Medical Center - Temple), Agatha Schlüter(Instituto de Salud Carlos III), Josefina Casas(Instituto de Salud Carlos III), Stephanie S Thompson(Baylor Scott & White Medical Center - Temple), Reza Maroofian(National Hospital for Neurology and Neurosurgery), Juan José Martínez(Consejo Nacional de Investigaciones Científicas y Técnicas), Carlos Casasnovas(Bellvitge University Hospital), Yue Si, Edgard Verdura(Instituto de Salud Carlos III)
Cited by 23
Related Papers
Homozygous Mutations in CSF1R Cause a Pediatric-Onset Leukoencephalopathy and Can Result in Congenital Absence of Microglia
|The American Journal of Human Genetics|2019|263
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
|Nature Communications|2019|249
Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis
|Brain|2013|143
Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents
|Human Genetics|2016|139
A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency
|Journal of Allergy and Clinical Immunology|2019|119