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Hypoplasia of teeth
- ... early in life and are characterized by skeletal abnormalities, tooth loss, and progressive hearing loss.Like early-onset ...
- ... early development, leading to missing teeth and other dental abnormalities. A loss of the MSX1 gene probably also ... gene variants (also called mutations) are associated with abnormalities of mouth and tooth development. For example, changes in this gene contribute ...
- ... have been found in individuals with ataxia and dental abnormalities. Unlike in Pol III-related leukodystrophy (described above), ... major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism. J Med Genet. 2013 ...
- ... STAT3 gene mutations lead to the skeletal and dental abnormalities characteristic of this condition, but it is unclear ...
- ... its other functions leads to the nail and tooth abnormalities that occur in this condition.LOC syndrome is ...
- ... protein can also lead to distinctive facial features, tooth abnormalities, and problems with development of other parts of ...
- ... fontanelle) in infancy, widely spaced eyes (hypertelorism), and dental abnormalities. Like affected individuals with NIPBL gene variants, those ...
- ... fingernails, teeth that are present from birth (neonatal teeth), and abnormalities of the heart muscle (cardiomyopathy). The skin abnormalities ...
- ... bone and joint malformations; distinctive facial features; and abnormalities of the skin, hair, teeth, sweat glands, and nails. The mutations that cause ...
- ... EW. Autosomal dominant postaxial polydactyly, nail dystrophy, and dental abnormalities map to chromosome 4p16, in the region containing ...