Further support linking the 22q11.2 microduplication to an increased risk of bladder exstrophy and highlighting LZTR1 as a candidate gene

Molecular Genetics & Genomic Medicine

  ^{1    2    3    4    5    6    7    7    7    8    9    1,10} 

[1] Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden;Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden;Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden;Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden;Science for Life Laboratory, Karolinska Institutet Science Park, Stockholm, Sweden;Department of Clinical Neuroscience, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden;Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden;Department of Pediatric Surgery, Sahlgrenska Academy, Gothenburg, Sweden;Department of Pediatric Surgery, University Hospital Lund, Lund, Sweden;Department of Women’s and Children’s Health, Karolinska Institutet, Stockholm, Sweden;Department of Women’s and Children’s Health, Karolinska Institutet, Stockholm, Sweden;Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden;Department of Women’s and Children’s Health, Karolinska Institutet, Stockholm, Sweden;Pediatric Surgery, Astrid Lindgren Children Hospital, Karolinska University Hospital, Stockholm, Sweden;Department of Women’s and Children’s Health, Uppsala University, Uppsala, Sweden;

关键词: array‐CGH;    bladder exstrophy;    confocal microscopy;    exome sequencing;    fluorescence spectrometry;    LZTR1;    microduplication;   

DOI  :  10.1002/mgg3.666

来源: publisher

【 授权许可】

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