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Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome.
Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.
Genetic alterations in caspase-10 may be causative or protective in autoimmune lymphoproliferative syndrome.
Null mutations in the N-acetylglutamate synthase gene associated with acute neonatal disease and hyperammonemia.
Carrier and prenatal diagnosis of X-linked severe combined immunodeficiency: mutation detection methods and utilization.