期刊论文详细信息
Molecular Genetics & Genomic Medicine
Concurrent manifestation of oligodontia and thrombocytopenia caused by a contiguous gene deletion in 12p13.2: A three‐generation clinical report
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[1] Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands;Department of Hematology, University Medical Center Utrecht, Utrecht, the Netherlands;Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands;Department of Oral‐Maxillofacial Surgery, Prosthodontics and Special Dental Care, University Medical Center Utrecht, Utrecht, the Netherlands;Department of Oral‐Maxillofacial Surgery, Prosthodontics and Special Dental Care, University Medical Center Utrecht, Utrecht, the Netherlands;Center for Dentistry and Oral Hygiene, Department of Fixed and Removable Prosthodontics and Biomaterials, University Medical Center Groningen, Groningen, the Netherlands;Department of Oral‐Maxillofacial Surgery, Prosthodontics and Special Dental Care, St. Antonius Hospital Nieuwegein, Nieuwegein, the Netherlands;
关键词: contiguous gene deletion;    ETV6;    LRP6;    oligodontia;    thrombocytopenia;   
DOI  :  10.1002/mgg3.679
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