Abstract Pfeiffer syndrome is a rare autosomal dominantly inherited disorder that associates craniosynostosis, broad and deviated thumbs and big toes, and partial syndactyly on hands and feet.Hydrocephaly may be found occasionally, along with severe ocular proptosis, ankylosed elbows, abnormal viscera, and slow development.Based on the severity of
Singleton-Merten syndrome (SMS) is an autosomal dominant, multi-system innate immune disorder characterized by early and severe aortic and valvular calcification, dental and skeletal Western Saddle Synthetic abnormalities, psoriasis, glaucoma, and other varying clinical findings.Recently we identified a specific gain-of-function mutation in IFIH1,
Groundwater is a valuable resource for meeting the daily needs of humans, which continues to increase along with population growth.Therefore, it is essential to maintain groundwater properly.Groundwater management can be carried out comprehensively in groundwater basins, including determining groundwater recharge areas.This study aims to determine