Tag Archives: Genetics

Genetics Home Reference: PLCG2-associated antibody deficiency and immune dysregulation

PLCG2-associated antibody deficiency and immune dysregulation (PLAID) is an immune system disorder characterized by an allergic reaction to cold temperatures. Other immune system problems can also occur. The hallmark feature of PLAID is the development of a red, itchy rash (hives) when the skin is exposed to cool temperatures, which is known as cold urticaria.… Read More: Genetics Home Reference: PLCG2-associated antibody deficiency and immune dysregulation »

How Functional Genetics Can Help You Take Control of Your Health

Functional genomics is a gene testing modality with enormous value that many are completely unaware of. Bob Miller1 is a certified traditional naturopath specializing in genetic-specific nutrition. He’s the founder of the NutriGenetic Research Institute,2 devoted to testing and helping people understand the results of their functional genetic testing and how to apply it to… Read More: How Functional Genetics Can Help You Take Control of Your… »

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: Genetics Home Reference: PACS1 syndrome »

Genetics Home Reference: Xia-Gibbs syndrome

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: Genetics Home Reference: Xia-Gibbs syndrome »