Although infantile hemangiomas spontaneously regress over time, some may leave residual redundant fibrofatty tissue, scar, residual telangiectasia, or pigmentary changes.
32.
Macular telangiectasia type 2 usually present first between the ages of 50 and 60 years, with a mean age of 55 59 years.
33.
These are ataxia with oculomotor apraxia type 1 ( AOA1 ), ataxia with oculomotor apraxia 2 ( AOA2 ), and ataxia telangiectasia.
34.
Ataxia telangiectasia ( AT ) is a rare human disease characterized by cerebellar degeneration, extreme cellular sensitivity to radiation and a predisposition to cancer.
35.
For instance two dominant-negative germ line mutations were identified in the Ataxia telangiectasia mutated ( ATM ) gene which increases susceptibility to breast cancer.
36.
Even though ataxia telangiectasia is an autosomal recessive disorder, people who are heterozygotes for this still have an increased risk of developing a lymphoproliferative disorder.
37.
Mutations in ATR are responsible for Seckel syndrome, a rare human disorder that shares some characteristics with ataxia telangiectasia, which results from ATM mutation.
38.
In the presence of ionizing radiation ( IR ), the Smc1 subunit of cohesin is phosphorylated by the ataxia telangiectasia mutated ( ATM ) kinase.
39.
These include ataxia telangiectasia, Nijmegen breakage syndrome, some subgroups of xeroderma pigmentosum, trichothiodystrophy, Fanconi anemia, Bloom syndrome and Rothmund-Thomson syndrome.
40.
Patients with ataxia telangiectasia have prolonged vertical and horizontal saccade latencies and hypometric saccades, and, although not all, some patients show head thrusts,.
