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Natural history of SPTBN4-related neurodevelopmental disorder with hypotonia, neuropathy, and deafness

Abstract Background Pathogenic variants in SPTBN4 have been linked to autosomal recessive “neurodevelopmental disorder with hypotonia, neuropathy, and deafness” (MIM# 617519) known as NEDHND. The disorder is highlighted with neuropathy, muscle weakness, and infrequent appearance of seizures in the a...

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Principais autores: Hanan AlQudairy, Mohammad A. AlMuhaizea, Mohamed Tohary, Maissa Alfuraih, Aisha Alnafisah, Aljouhra AlHargan, Anoud Albader, Hadeel Jaber, Rawan Almass, Albandary Albakheet, Terfa Alsheddi, Eman AlObeid, Maha M. Alrasheed, Ali Al-Odaib, Hamad AlZaidan, Moeenaldeen D. AlSayed, Namik Kaya
Formato: Artigo
Idioma:Inglês
Publicado em: BMC 2025-08-01
coleção:Orphanet Journal of Rare Diseases
Assuntos:
SPTBN4
Autosomal recessive cerebellar ataxia
Splicing variant
Whole exome sequencing
Sanger sequencing
NEDHND
Acesso em linha:https://doi.org/10.1186/s13023-025-03810-4
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