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Identification of a Mutation in MAP7D3 in a Patient with Hydrocephalus and Optic Nerve Edema: Case Report

<p>Introduction: Hydrocephalus is an etiologically heterogeneous disorder that may result from acquired insults or monogenic causes. More than 100 genes have been implicated in congenital and early-onset hydrocephalus, but MAP7D3 has not previously been associated with disturbances of cer...

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Principais autores: Tomas Moravec, Zdenek Musil, Ondra Petr, David Netuka
Formato: Artigo
Idioma:Inglês
Publicado: Karger Publishers 2026-04-01
Series:Case Reports in Neurology
Acceso en liña:https://karger.com/article/doi/10.1159/000550933
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