关键词: Brain atrophy Diffusion weighted imaging Magnetic resonance imaging SETBP1 Schinzel-Giedion syndrome
Mesh : Abnormalities, Multiple / diagnosis genetics pathology Atrophy / diagnosis genetics pathology Brain / metabolism pathology Carrier Proteins / genetics Craniofacial Abnormalities / diagnosis genetics pathology Disease Progression Exons Gene Expression Hand Deformities, Congenital / diagnosis genetics pathology Heterozygote Humans Infant, Newborn Intellectual Disability / diagnosis genetics pathology Male Mutation Nails, Malformed / diagnosis genetics pathology Nuclear Proteins / genetics Sequence Analysis, DNA Spasms, Infantile / diagnosis genetics pathology
来 源:
DOI:10.1016/j.ejmg.2015.05.006
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