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Pallisterov-Hallovej syndróm
Heslo Pallisterov-Hallovej syndróm Heslo anglicky Pallister-Hall Syndrome Vysvetľujúca pozn. v angl. A pleiotropic disorder of human development that comprises hypothalamic HAMARTOMA; central and postaxial POLYDACTYLY; bifid EPIGLOTTIS; ANAL ATRESIA; and renal and other abnormalities. This disorder is associated with FRAMESHIFT MUTATIONS in the GLI3 gene which encodes the GLI3 protein, a KRUPPEL-LIKE TRANSCRIPTION FACTORS family member. 
predmetové heslo
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