新生儿患有梅科尼乌的遗传和临床概况:一个病例系列

Chaitra Angadi1, Pankaj Chaudhary2, Poonam Singh3

  • 1Assistant Professor, Department of Neonatology, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, India.

Tropical doctor
|September 16, 2025
PubMed
概括

新生儿的梅科尼结膜可能表明囊性纤维化. 遗传测试在大多数情况下发现了囊性纤维化跨膜导电性调节器突变,突出了早期诊断和治疗这种严重疾病的重要性.