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Educational Resources
Congenital conditions are those present from birth.
CongenitalCongenital conditions are those present from birth. … Birth … Genetic Mutation, Newborn Screening, Genetics, Pregnancy … Congenital refers to a condition or trait that exists at birth. Congenital conditions or traits may be hereditary or result …
Staff
Dr. Brian Brooks is an adjunct investigator in NHGRI's Center for Precision Health Research.
… Dr. Brooks studies a potentially blinding congenital malformation of the eye called uveal coloboma. The condition … novel CRX mutant proteins causing autosomal dominant Leber congenital amaurosis interact differently with NRL. Human …
News Release
NHGRI researchers collaborated with physicians and medical geneticists worldwide to create the Atlas of Human Malformation Syndromes in Diverse Populations.
… geneticists around the world to create the Atlas of Human Malformation Syndromes in Diverse Populations. Health care … and genetic diseases in people of diverse ancestry." Congenital malformations , also known as birth defects, are … and Paul Kruszka, M.D., co-created the Atlas of Human Malformation Syndromes in Diverse Populations with …
News Release
An expert panel from the Clinical Genome Resource (ClinGen) has critically reevaluated the scientific evidence for all 17 reported genes, disputing nine of the genes and revealing only three of the genes to be definitively associated with the most common form of the disease.
… Resources … Genomics experts dispute nine genes linked to congenital heart condition … An expert panel from the …
News Release
NHGRI researchers and their international collaborators have added Williams-Beuren syndrome to the Atlas of Human Malformation Syndromes in Diverse Populations.
… have added Williams-Beuren syndrome to the Atlas of Human Malformation Syndromes in Diverse Populations. … By adding … Content … Williams-Beuren syndrome added to Atlas of Human Malformation Syndromes in Diverse Population … NHGRI … have added Williams-Beuren syndrome to the Atlas of Human Malformation Syndromes in Diverse Populations. ​ … …
Genetic Disorders
Duane syndrome is a rare, congenital eye movement disorder.
… Duane syndrome is a rare, congenital eye movement disorder. … Duane syndrome (DS) is a … syndrome), Eye Retraction Syndrome, Retraction Syndrome, Congenital retraction syndrome and Stilling-Turk-Duane … have been found in association with DS. These include malformation of the skeleton, ears, eyes, kidneys and nervous …
Educational Resources
A birth defect is an abnormality present at birth.
… … A birth defect is an abnormality present at birth. … Congenital Defect, Genetic Mutation, Pregnancy, Newborn Testing … A birth defect (also called a congenital defect) is a physical or physiological abnormality …
Genetic Disorders
Noonan syndrome involves unusual facial characteristics, short stature, heart defects, bleeding problems, developmental delays and malformations of the ribs.
… appearance. Short stature. Heart defect present at birth (congenital heart defect). A broad or webbed neck. Minor eye … appearance. Short stature. Heart defect present at birth (congenital heart defect). A broad or webbed neck. Minor eye …
Staff
Dr. Carsten Bonnemann is an adjunct investigator in the Medical Genetics Branch at the National Human Genome Research Institute. ​
… focus is on early-onset muscle disease, including the congenital myopathies, congenital muscular dystrophies, and the often rapidly … therapeutic interventions for patients who are affected by congenital muscle disorders. … C.G. Bönnemann: The Collagen …
News Release
NHGRI researchers have successfully used facial recognition software to diagnose a rare, genetic disease in known as DiGeorge syndrome.
… interventions and provide better medical care. "Human malformation syndromes appear different in different parts of … syndrome. ​ … DiGeorge syndrome, facial recognition, human malformation syndromes, Down syndrome, Marius George …