Growth and neurodevelopmental disorder with arthrogryposis, microcephaly and structural brain anomalies caused by Bi-allelic partial deletion of SMPD4 gene-论文-万方医学网

Growth and neurodevelopmental disorder with arthrogryposis, microcephaly and structural brain anomalies caused by Bi-allelic partial deletion of SMPD4 gene

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作者： Sunita,Bijarnia-Mahay ^[1] ; Puneeth H.,Somashekar ^[2] ; Parneet,Kaur ^[3] ; Samarth,Kulshrestha ^[4] ; Vedam L.,Ramprasad ; Sakthivel,Murugan ; Seema,Sud ; Anju,Shukla

作者单位： Medgenome Laboratories Ltd ^[1] Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital ^[2] Department of Medical Genetics,Kasturba Medical College, Manipal, Manipal Academy of Higher ^[3] Department of MRI,Sir Ganga Ram Hospital ^[4]

发布时间 2022-04-29

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Growth and neurodevelopmental disorder with arthrogryposis, microcephaly and structural brain anomalies caused by Bi-allelic partial deletion of SMPD4 gene

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Growth and neurodevelopmental disorder with arthrogryposis, microcephaly and structural brain anomalies caused by Bi-allelic partial deletion of SMPD4 gene

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