换一批A pediatric case of diphthamide biosynthesis 1 gene defect presenting with developmental delay, short stature, dysmorphic features, and sparse hair (Loucks-Innes syndrome): a case report.
第一作者：
Yazan A,Al-Ajlouni
第一单位：
New York Medical College School of Medicine, Department of Physical Medicine and Rehabilitation, Metropolitan Hospital, Valhalla, New York, NY, 10595, USA. yal_ajlo@student.touro.edu.
作者：
医学主题词
人类(Humans);男(雄)性(Male);青少年(Adolescent);发育障碍(Developmental Disabilities);侏儒症(Dwarfism);脑积水(Hydrocephalus)
DOI
10.1186/s13256-025-05713-1
PMID
41444928
发布时间
2025-12-27
- 浏览0
相似文献
- 中文期刊
- 外文期刊
- 学位论文
- 会议论文
