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3M syndrome patient with a novel mutation: A case report.
World Journal of Clinical Cases ( IF 1.1 ) Pub Date : 2024-4-5 , DOI: 10.12998/wjcc.v12.i8.1454
Ming-Ran Luo , Si-Ming Dai , Yin Li , Qian Wang , Hao Liu , Peng Gao , Jia-Yun Liu , Jian Chen , Shu-Jie Zhao , Guo-Yong Yin

A rare autosomal recessive genetic disorder, 3M syndrome, is characterized by severe intrauterine and postnatal growth retardation. Children with 3M syndrome typically exhibit short stature, facial deformities, long tubular bones, and high vertebral bodies but generally lack mental abnormalities or other organ damage. Pathogenic genes associated with 3M syndrome include CUL7, OBSL1 and CCDC8. The clinical and molecular characteristics of patient with 3M syndrome are unique and serve as important diagnostic indicators.

中文翻译:

具有新突变的 3M 综合征患者:病例报告。

3M 综合征是一种罕见的常染色体隐性遗传病,其特征是严重的宫内和产后生长迟缓。患有3M综合征的儿童通常表现出身材矮小、面部畸形、长管状骨和高椎体,但通常没有精神异常或其他器官损伤。与3M综合征相关的致病基因包括CUL7OBSL1CCDC8。 3M综合征患者的临床和分子特征独特,可作为重要的诊断指标。
更新日期:2024-04-05
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