一个患有戈尔茨-戈林综合征的儿科患者的牙脸表现
Anku Tupper1, Pavithra Devi K2, Morankar Rahul1
1Pediatric and Preventive Dentistry, All India Institute of Medical Sciences, Delhi, New Delhi, India.
BMJ case reports
|February 14, 2024
概括
戈尔茨-戈林综合征是一种罕见的由PORCN基因突变引起的X链系疾病,导致皮肤问题和明显的口腔问题,如质低形成和异常牙发育.
科学领域:
- 遗传学 是一个遗传学.
- 皮肤病学 皮肤病学
- 牙科 牙科是指牙科的专业.
背景情况:
- 戈尔茨-戈林综合征是一种罕见的X系遗传性疾病.
- 它与PORCN基因的突变有关.
- 这种综合症主要影响皮肤及其附属物,呈现特有的皮肤特征.
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