Loss-of-function of activity-dependent neuroprotective protein (ADNP) by a splice-acceptor site mutation causes Helsmoortel-Van der Aa syndrome
D'Incal, Claudio Peter, Annear, Dale John, Elinck, Ellen, van der Smagt, Jasper J, Alders, Mariëlle, Dingemans, Alexander J M, Mateiu, Ligia, de Vries, Bert B A, Vanden Berghe, Wim, Kooy, R Frank
Published in European journal of human genetics : EJHG (01.06.2024)
Published in European journal of human genetics : EJHG (01.06.2024)
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