The genetic etiology research progress of oculo-auriculo-vertebral spectrum / 中华整形外科杂志

ABSTRACT

Oculo-auriculo-vertebral spectrum(OAVS)is one of common birth defects, which involves primarily optical, aural, maxillomandibular and spinal abnormal development. To date, the hereditary basis of OAVS has been generally accepted, but the responsible gene remains unclear. This article reviewed the possible etiology of OAVS in chromosome analysis, genome copy number detection, gene identification and mouse model, and analyzed the strategy for OAVS research.