A syndrome of facial dysmorphism, cubital pterygium, short distal phalanges, swan neck deformity of fingers, and scoliosis

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作者： Girisha,K.M. ^[1] ; Abdollahpour,H. ^[2] ; Shah,H. ^[3] ; Bhavani,G.S. ^[4] ; Graham,J.M. ^[5] ; Boggula,V.R. ; Phadke,S.R. ; Kutsche,K.

作者单位： Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany ^[1] Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow ^[2] Pediatric Orthopedics Service, Department of Orthopedics, Kasturba Medical College, Manipal ^[3] Division of Medical Genetics, Department of Pediatrics, Kasturba Medical College, Manipal ^[4] Medical Genetics Institute, Cedars Sinai Medical Center, David Geffen School of Medicine at UCLA ^[5]

关键词 7p22.3 duplication Broad finger tips FAM20C Filamin Overhanging nasal tip Short distal phalanges of fingers Short fibula short metatarsal Swan neck deformity of fingers Webbing at elbows

发布时间 2014-06-18

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