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News Release
Researchers have identified genomic mutations for Carey-Fineman-Ziter syndrome, a congenital myopathy with facial weakness, a cleft palate and scoliosis.
… retracted chin, a cleft palate and curvature of the spine (scoliosis), among other symptoms. … The researchers … myopathy with facial weakness, a cleft palate and scoliosis. ​ … Carey-Fineman-Ziter syndrome, CFZS, MYMK gene, … myopathy with facial weakness, a cleft palate and scoliosis. … News Release …
Staff
Dr. Wilson is the co-chief of and senior investigator in NHGRI's Computational and Statistical Genomics Branch.
… traits (e.g., traits related to cardiovascular disease and scoliosis), the coding and non-coding elements that may be … disease, depression and alcoholism, familial idiopathic scoliosis and kyphoscoliosis, and craniosynostosis). … and analysis of about 70 families with familial idiopathic scoliosis (Nancy Miller). … Wilson AF, Cohen JC. Hypotheses …
News Release
Dr. Wilson officially retired from The National Human Genome Research Institute (NHGRI) in September 2020, yet he remains on as a scientist emeritus in its Computational and Statistical Genomics Branch, where he was co-chief for 14 years.
… of various human diseases, including idiopathic scoliosis, a relatively common disorder that involves a … Computational and Statistical Genomics Branch, idiopathic scoliosis, craniosynostosis … Dr. Wilson officially retired …
Genetic Disorders
Marfan syndrome an inherited disorder of connective tissue occurring once in every 10,000 to 20,000 individuals.
… carinatum or pigeon breast). Curvature of the spine (scoliosis) is another common skeletal symptom that can be mild or severe and progressively worsen with age. Scoliosis shortens the trunk also contributes to the arms and … an artificial lens implanted. Skeletal problems such as scoliosis and pectus excavatum may require surgery. For those …
Genetic Disorders
Turner syndrome is a chromosomal condition that alters development in females.
… Minor eye problems that are corrected by glasses. Scoliosis (deformity of the spine) occurs in 10 percent of … Kidney Problems, High Blood Pressure, Minor Eye Problems, Scoliosis, Osteoporosis … Turner syndrome is a chromosomal …
Genetic Disorders
Neurofibromatosis is a genetic neurological disorder that can affect the brain, spinal cord, nerves and skin.
… of the eye (optic glioma). Severe curvature of the spine (scoliosis). Enlargement or malformation of other bones in the … treatment may include surgery and/or radiation. For scoliosis, treatment may include surgery or back braces. For … Neurofibromas, Lisch Nodules, Optic Glioma, Scoliosis, Schwannomas, Meningiomas, Tinnitus, Cateracts, …
Genetic Disorders
Cri du chat syndrome is a rare genetic condition that is caused by the deletion of genetic material on the the p arm of chromosome 5.
… feeding difficulties, delays in walking, hyperactivity, scoliosis, and significant disability. A small number of …
Genetic Disorders
Charcot-Marie-Tooth disease is an inherited neurological disease characterized by a slowly progressive degeneration of the muscles and loss of sensation.
… sight and/or hearing loss, and, in some individuals, scoliosis (curvature of the spine). People with CMT disease …
Genetic Disorders
Velocardiofacial syndrome is the most common syndrome associated with a cleft palate.
… differences in the spine such as curvature of the spine (scoliosis) or bony abnormalities in the neck or upper back; …
Genetic Disorders
Osteogenesis imperfecta is a genetic disorder that causes a person's bones to break easily, often from little or no apparent trauma.
… imperfecta), abnormal curvature of the spine (scoliosis) and loose joints. People with this condition may …