Axonal motor polyneuropathy in a 13 years old Girl with a de Novo variant in ADNP
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ADNP-Related Disorder [previously known as Helsmoortel-Van der Aa syndrome (HVDAS)] is a rare genetic condition resulting from mutations in the activity-dependent neuroprotector homeobox (ADNP) gene. The ADNP protein has multiple functions, including serving a... ...
