:

Henrique Regonaschi Serigatto1, Nancy Mizue Kokitsu-Nakata1, Siulan Vendramini-Pittoli1

  • 1Department of Clinical Genetics, Hospital of Rehabilitation of Craniofacial Anomalies, University of São Paulo, Bauru, São Paulo, Brazil.

概括

眼耳鼻前鼻综合征 (OAFNS) 是一种罕见的疾病,结合了前鼻张力症和眼耳鼻脊椎谱. 这项研究完善了OAFNS表型的理解,指出了变异性和潜在的非传统遗传模式.