关键词: ITPR1 gene pontocerebellar hypoplasia spinocerebellar ataxia
Mesh : Alleles Amino Acid Substitution Cerebellum / abnormalities Child DNA Mutational Analysis Developmental Disabilities / diagnosis genetics Female Genotype High-Throughput Nucleotide Sequencing Humans Inositol 1,4,5-Trisphosphate Receptors / genetics Magnetic Resonance Imaging / methods Mutation, Missense Nervous System Malformations / diagnosis genetics Phenotype Pons / abnormalities Spinocerebellar Ataxias / diagnosis genetics
来 源:
DOI:10.1002/ajmg.a.37962
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