SPTBN4[HGNC][GeneCards][NCBI] 基因种类(locus group) protein-coding gene 同源简称(alias symbol) SPTBN3|KIAA1642 基因家族代码(gene_family_id) 682[HGNC][GenScript] omim代码 606214 entrez码 57731[Vega] ensembl基因码 ENSG00000160460[Ensembl] ...
SPTBN4Spectrin beta non-erythrocytic 4Mutations in spectrin beta non-erythrocytic 4 (SPTBN4) have been linked to congenital hypotonia, intellectual disability and motor neuropathy. Here we report on two siblings with a homozygous splice-site mutation in the SPTBN4 gene, lacking previously ...
We report here a male patient with the SPTBN4 gene mutation presenting with core symptoms but not hearing loss and epilepsy. There were also previously unreported dysmorphic findings such as prominent eyebrows, bilateral constant esotropia, microphthalmia, bitemporal narrowing, low hairline, low-set ...