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523
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Growth abnormality
- ... have no symptoms. However, depending on the size, growth rate, and location of these abnormalities, they can cause pain in the jaw, neck, ... signal transduction. The disturbed signaling can impair cell growth and ... abnormalities associated with familial TAAD.Mutations in other genes, ...
- ... However, unlike the mutations that cause those other abnormalities of brain growth, the genetic changes related to isolated hemimegalencephaly are ...
- ... structure of connective tissue and disrupts regulation of growth factor activity. The resulting abnormalities of connective tissue underlie the signs and symptoms ...
- ... with fibrochondrogenesis type 1, a disorder of bone growth characterized by severe skeletal abnormalities, hearing loss, and vision loss. Infants with fibrochondrogenesis ...
- ... commonly have scarring and an absence of hair growth in the affected area.Abnormalities of the hands and feet are also common ...
- ... the CDKN1C gene prevent this protein from restraining growth, which leads to the abnormalities characteristic of Beckwith-Wiedemann syndrome.Up to 6 ...
- ... characterized by short stature (dwarfism) and other skeletal abnormalities. The growth problems in Saul-Wilson syndrome are called primordial, ...
- ... created to replace it. These changes in bone growth and turnover underlie the bone abnormalities characteristic of melorheostosis.In cases of melorheostosis without ...
- ... the Sonic Hedgehog pathway, which may underlie the abnormalities of bone growth characteristic of asphyxiating thoracic dystrophy.In some affected individuals, asphyxiating thoracic dystrophy is also associated with abnormalities of the kidneys, liver, retinas, and other tissues. ...
- ... the Sonic Hedgehog pathway, which may underlie the abnormalities of bone growth characteristic of asphyxiating thoracic dystrophy.In some affected individuals, asphyxiating thoracic dystrophy is also associated with abnormalities of the kidneys, liver, retinas, and other tissues. ...