Article
Prenatal and early diagnosis of Chinese 3-M syndrome patients with novel pathogenic variants.
Clinica chimica acta; international journal of clinical chemistry - 1 Nov 2017
Hu Xuyun, Li Hongdou, Gui Baoheng, Xu Yufei, Wang Jin, Li Niu, Su Jiasun, Zhang Shujie, Song Yanning, Wang Yi, Luo Jingsi, Fan Xin, Wang Jian, Chen Shaoke, Gong Chunxiu, Shen Yiping
Abstract excerpt
BACKGROUND: 3-M syndrome is a clinically recognizable yet under-diagnosed primordial growth retardation disorder. Molecular testing for CUL7, OBSL1 or CCDC8 genes can provide confirmed diagnosis for patients at prenatal or early age. So far, the clinical and molecular features of Chinese 3-M syndrome patients have not been reported. METHODS: In this article, the authors performed prenatal and early diagnosis of...
Topics
- Child
- Child, Preschool
- China
- Dwarfism
- Early Diagnosis
- Female
- Genotype
- Humans
- Infant
- Male
- Muscle Hypotonia
- Phenotype
- Pregnancy
- Prenatal Diagnosis