一种新的骨发育不良症,伴有前额过度生长,牙生殖不良症和牙超症

Paulo Marcio Yamaguti1,2, Shélida Vasconcelos Braz3,4, Audrey Asselin5

  • 1Department of Dentistry, Laboratory of Oral Histopathology, Faculty of Health Sciences, University of Brasilia, Brasilia, Brazil.

Clinical genetics
|June 2, 2025
PubMed
概括

一种新型骨疾病与ENPP5 (核核酸酸酶/酸酶5) 的遗传变异有关,导致面部和牙异常,包括过度生长. 这一发现突显了ENPP5的ENPP5特性.

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