First case of Hajdu-Cheney syndrome in Lithuania caused by novel NOTCH2 gene likely pathogenic variant
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Published:2024-06
Issue:
Volume:69
Page:104938
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ISSN:1769-7212
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Container-title:European Journal of Medical Genetics
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language:en
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Short-container-title:European Journal of Medical Genetics
Author:
Tėvelytė Ieva,
Bertašius Paulius,
Aleknavičienė Kristina,
Jonikas Rimvydas,
Klimaitė Justina,
Jašinskienė Edita,
Traberg RasaORCID