Tag Archives: Syndrome

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 »

Paroxysmal Pressing Headache Examined as a New Headache Syndrome – Clinical Pain Advisor

According to a study published in Cephalalgia, paroxysmal pressing headache has been identified as a new headache syndrome marked by spontaneous attacks without accompaniments that last only a few minutes with pain located in 1 region of 1 side of the head, which can shift between episodes. The investigators of this prospective study sought to… Read More »

Genetics Home Reference: Smith-Kingsmore syndrome

Gordo G, Tenorio J, Arias P, Santos-Simarro F, García-Miñaur S, Moreno JC, Nevado J, Vallespin E, Rodriguez-Laguna L, de Mena R, Dapia I, Palomares-Bralo M, Del Pozo Á, Ibañez K, Silla JC, Barroso E, Ruiz-Pérez VL, Martinez-Glez V, Lapunzina P. mTOR mutations in Smith-Kingsmore syndrome: Four additional patients and a review. Clin Genet. 2018 Apr;93(4):762-775.… Read More »