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).
The hereditary form is an autosomal dominant disease
first evident in early childhood.
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.