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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.
… chin, a cleft palate and curvature of the spine ( scoliosis ), among other symptoms. … the researchers …
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). …
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 …
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 …
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 …
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 retardation. 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 …
Genetic Disorders
Duchenne muscular dystrophy is a rapidly progressive form of muscular dystrophy caused by a mutation in the DMD gene.
… surgery may be needed for severe contractures and scoliosis . … duchenne muscular dystrophy is inherited in an …