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Genetics Home Reference: rigid spine muscular dystrophy

Ardissone A, Bragato C, Blasevich F, Maccagnano E, Salerno F, Gandioli C, Morandi L, Mora M, Moroni I. SEPN1-related myopathy in three patients: novel mutations and diagnostic clues. Eur J Pediatr. 2016 Aug;175(8):1113-8. doi: 10.1007/s00431-015-2685-3. Epub 2016 Jan 16. Caggiano S, Khirani S, Dabaj I, Cavassa E, Amaddeo A, Arroyo JO, Desguerre I, Richard P,… 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 »