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Previously
- The SLC52A3 gene (previously called the C20orf54 gene) provides instructions for making a riboflavin transporter protein called RFVT3 (formerly known as RFT2). This ...
- ... provides instructions for making a protein called antithrombin (previously known as antithrombin III), which is a type ...
- ... instructions for making an enzyme called aldosterone synthase (previously known as corticosterone methyloxidase). This enzyme is found ...
- The ZMYM2 gene (previously known as ZNF198) provides instructions for making a protein whose function is not clearly understood. It is a member ...
- ... achieving normal developmental milestones and begin to lose previously acquired skills such as turning over, sitting, and ... 21 new cases and literature review of 134 previously reported. Pediatrics. 2006 Nov;118(5):e1550-62. ...
- ... fall along a spectrum. In more severe cases (previously diagnosed as infantile systemic hyalinosis), signs and symptoms ... and can be life-threatening. In milder cases (previously diagnosed as juvenile hyaline fibromatosis), signs and symptoms ...
- ... growths called cylindromas, spiradenomas, and trichoepitheliomas. Cylindromas were previously thought to derive from sweat glands, but they ... psychological problems. CYLD cutaneous syndrome includes the conditions previously called Brooke-Spiegler syndrome, multiple familial trichoepithelioma, and ...
- ... condition featuring gouty arthritis called HPRT-related gout, previously known as Kelley-Seegmiller syndrome. Individuals with this ... 75 new cases and a review of 196 previously reported cases. Mutat Res. 2000 Oct;463(3): ...
- ... committee). Doctors who treat families with a new, previously unknown disorder are often the first to propose ...
- ... The origin of cylindromas has been unclear; while previously thought to derive from sweat glands, they are ...
