关键词: RIPPLY2 cervical spine malformation oculo-auriculo-vertebral spectrum spondylocostal dysostosis type 6 supernumerary ribs
Mesh : Abnormalities, Multiple / diagnostic imaging genetics pathology Cervical Vertebrae / diagnostic imaging Female Hernia, Diaphragmatic / diagnostic imaging genetics pathology Homozygote Humans Klippel-Feil Syndrome / diagnostic imaging genetics pathology Magnetic Resonance Imaging Musculoskeletal Abnormalities / diagnostic imaging genetics pathology Mutation / genetics Radiography Repressor Proteins / genetics Whole Exome Sequencing
来 源:
DOI:10.1002/ajmg.a.61549
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