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Genetics Home Reference: cerebro-facio-thoracic dysplasia

Cerebro-facio-thoracic dysplasia is a rare condition characterized by abnormal development (dysplasia) of the brain (cerebro) and structures in the face (facio) and torso (thoracic). The problems with development lead to the key features of cerebro-facio-thoracic dysplasia, which include severe intellectual disability, distinctive facial features, and abnormalities of the ribs and spinal bones (). In addition… Read More »

10 Natural Home Remedies for UTI

Conditions You can drink more than just cranberry juice. What is a urinary tract infection (UTI)? Vitalii Marchenko/Shutterstock A urinary tract infection (UTI) is when bacteria from outside the body gets into the urinary tract, affecting the kidneys, bladder, or the urethra. Although anyone can get a urinary tract infection, they are most common in women… Read More »

Genetics Home Reference: PACS1 syndrome

Dutta AK. Schuurs-Hoeijmakers syndrome in a patient from India. Am J Med Genet A. 2019 Jan 28. doi: 10.1002/ajmg.a.61058. [Epub ahead of print] Gadzicki D, Döcker D, Schubach M, Menzel M, Schmorl B, Stellmer F, Biskup S, Bartholdi D. Expanding the phenotype of a recurrent de novo variant in PACS1 causing intellectual disability. Clin Genet.… Read More »