autosomal dominant disease


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Synonyms for autosomal dominant disease

References in periodicals archive ?
Lipomatosis is an autosomal dominant disease featuring multiple lipomas on the trunk, proximal thighs, and distal arms.
We have been using this technique primarily for screening mitochondrial DNA and studied the FGFR genes as a model for the use of TTGE in autosomal dominant disease.
Offspring have a 50 percent chance of inheriting an autosomal dominant disease.
Milroy's disease, an autosomal dominant disease caused by failure of lymphangiogenesis secondary to inactivation of VEGFR-3 with familial, bilateral below-knee lymphoedema.
Lymphoedema-distichiasis syndrome is an autosomal dominant disease caused by mutations in FOXC2 (MFH-1).
There's clearly an inheritance pattern that suggests an autosomal dominant disease," said Dr.
The findings showed an inheritance pattern that suggested an autosomal dominant disease, Dr.
ATTR-PN is a relatively late onset autosomal dominant disease characterized by inexorable neurodegeneration associated with sensory loss, motor weakness and autonomic dysfunction, including dizziness, gastrointestinal disorders, sexual dysfunction and urinary incontinence.
The extraintestinal manifestations aid the diagnosis of this autosomal dominant disease, characterized by multiple adenomatous polyps of the colon and rectum.
Camptodactyly, the flexion contracture of the proximal interphalangeal joint usually involves the small finger and may be a component of some autosomal dominant diseases, such as Marfan's syndrome, cranio-carpo-tarsal dystrophy and oculo-dento-digital dysplasia.
Camptodactyly is also a part of some autosomal dominant diseases, such as Marfan's syndrome, cranio-carpo-tarsal dystrophy and oculo-dentodigital dysplasia.
We are constantly seeking ways to use such technology to treat human diseases, and this announcement is a positive indication showing the potential of parthenogenetic stem cells to treat certain types of autosomal dominant diseases such as particular forms of beta thalassemia or even Huntington's disease.
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