Tumors that grow and then regress on their own define Ferguson-Smith disease, linked to TGFBR1 variants that also feature in Loeys-Dietz syndrome.
Movement, balance and autonomic symptoms can look like Parkinson's disease, which is why MSA is often misdiagnosed; the two subtypes and genetic markers are described.
Excess eosinophils from the bone marrow can cause fatigue, fever, weight loss and organ damage in MDCWE, and mutation testing supports diagnosis and family screening.
Explore how genetic testing aids in diagnosing Myhre Syndrome, improves personalized treatment, and supports family planning. Uncover future directions in genetic research.
Cone and rod cells in the retina break down in NCRD, dulling color and low-light vision; DNA analysis can identify variants and open clinical trial options.
Also known as clear cell RCC, this kidney cancer frequently carries VHL, PBRM1 or BAP1 mutations, and repeat profiling can reveal resistance to current therapy.
Central vision suffers when the macula develops abnormally in NCMD, inherited in an autosomal dominant pattern. A chromosome 5p link in a Danish family is discussed.
Ocular, auditory and radial limb anomalies combine in this rare syndrome; genetic testing can distinguish oculootoradial syndrome from look-alike disorders.