A novel homozygous frameshift variant in SPTBN4 causes axonal neuropathy with intellectual disability in a consanguineous family

Introduction: Neurodevelopmental disorder with hypotonia, neuropathy, and deafness (NEDHND, OMIM #617519) is an autosomal recessive condition arising from variations in the SPTBN4 gene. This gene codes for βIV-spectrin, a non-erythrocytic member of the β-spectrin family. Homozygous variants in SPTBN...

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Autors principals:	Rabab Ibrahim, Ghazala Zafar, Shafaq Ramzan, Hijab Zahra, Asmat Ali, Shahnaz Ibrahim, Mathias Toft, Zafar Iqbal, Ambrin Fatima
Format:	Artigo
Idioma:	Inglês
Publicat:	Elsevier 2024-01-01
Col·lecció:	Rare
Matèries:	Neurodevelopmental disorder SPTBN4 Developmental delay Frameshift mutation Whole exome sequencing
Accés en línia:	http://www.sciencedirect.com/science/article/pii/S2950008724000206
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