A Novel Homozygous Frameshift Variant in SPTBN4 Causes Axonal Neuropathy with Intellectual Disability in a Consanguineous Family

Rabab Ibrahim, Ghazala Zafar,Shafaq Ramzan, Hijab Zahra, Asmat Ali,Shahnaz Ibrahim,Mathias Toft,Zafar Iqbal,Ambrin Fatima

Rare（2024）

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Key words
Neurodevelopmental disorder,SPTBN4,Developmental delay,Frameshift mutation,Whole exome sequencing
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