Loss of NDST1 <i>N</i>-sulfotransferase activity is associated with autosomal recessive intellectual disability

Elham Khosrowabadi, Florence Molinari(Inserm), Florence Riccardi(Inserm), Sabine Sigaudy(Hôpital de la Timone), Pierre Cacciagli(Hôpital de la Timone), Cécile Mignon‐Ravix(Inserm), Lena Kjellén(Uppsala University), Béatrice Desnous(Inserm), Mathieu Milh(Inserm), Laurent Villard(Inserm)

Human Molecular Genetics

December 21, 2023

10.1093/hmg/ddad203

Cited by 5

Related Papers

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes

|Nature Genetics|2010|509

Diagnosis delay in West syndrome: misdiagnosis and consequences

|European Journal of Pediatrics|2012|88

Molecular and clinical descriptions of patients with <scp>GABA<sub>A</sub></scp> receptor gene variants (<i><scp>GABRA1</scp>, <scp>GABRB2</scp>, <scp>GABRB3</scp>, <scp>GABRG2</scp></i>): A cohort study, review of literature, and genotype–phenotype correlation

|Epilepsia|2022|80

Schimke immunoosseous dysplasia: suggestions of genetic diversity

|Human Mutation|2006|64

Challenges and new perspectives of developmental cognitive EEG studies

|NeuroImage|2022|49