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De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies.

Familial Forms of Cushing Syndrome in Primary Pigmented Nodular Adrenocortical Disease Presenting with Short Stature and Insidious Symptoms: A Clinical Series.

Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features.

Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.