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Loss-of-function variants in ZEB1 cause dominant anomalies of the corpus callosum with favourable cognitive prognosis.
ARF1-related disorder: phenotypic and molecular spectrum.
Biallelic variants of ATP13A3 cause dose-dependent childhood-onset pulmonary arterial hypertension characterised by extreme morbidity and mortality.
O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum.
Diagnostic criteria for constitutional mismatch repair deficiency (CMMRD): recommendations from the international consensus working group.
De novo variants in SUPT16H cause neurodevelopmental disorders associated with corpus callosum abnormalities.
Germline RRAS2 mutations are not associated with Noonan syndrome.
Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease.