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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 »
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 »
Jiang Y, Wangler MF, McGuire AL, Lupski JR, Posey JE, Khayat MM, Murdock DR, Sanchez-Pulido L, Ponting CP, Xia F, Hunter JV, Meng Q, Murugan M, Gibbs RA. The phenotypic spectrum of Xia-Gibbs syndrome. Am J Med Genet A. 2018 Jun;176(6):1315-1326. doi: 10.1002/ajmg.a.38699. Epub 2018 Apr 25. Murdock DR, Jiang Y, Wangler M, Khayat MM,… Read More »